Neurology Asia

Clinical profile and outcomes of acute ischemic stroke in older persons: A prospective age-group comparative study

2026-04-23T12:04:59+00:00

Background & Objective: With a global population aging, understanding stroke characteristics in older persons becomes increasingly critical for optimising care strategies. This study investigated clinical profiles, risk factors, and treatment outcomes in older persons with acute ischemic stroke across different age groups.

Methods: This prospective observational study enrolled 310 patients aged ≥60 years with acute ischemic stroke over 12 months. Patients were categorized into younger older persons (60-80 years, n=212) and older-old persons (>80 years, n=98) groups. Clinical characteristics, risk factors, stroke severity using NIHSS, treatment modalities, and functional outcomes using modified Rankin Scale were analyzed.

Results: Older-old persons (>80 years) presented with more severe strokes (mean NIHSS 18.7±6.1 vs. 12.4±5.2, p<0.001) and higher rates of watershed infarcts (14.3% vs. 0.5%). Conservative management was used in 74.2% of patients, more frequently in the older-old persons (81.6% vs. 70.8%, p=0.042). Good functional outcomes (mRS 0-2) at 3 months were achieved in 66.5% overall but less in older-old patients (58.2% vs. 70.3%, p=0.042). IV thrombolysis showed the highest good recovery rate (77.2%) and lowest mortality (8.8%). Independent predictors of good outcome were younger age (OR 0.92), lower baseline NIHSS (OR 0.84), and early presentation ≤3 hours (OR 2.28), while atrial fibrillation was a negative predictor (OR 0.58). The older-old patients more likely to have AF (57.1% vs 29.2%, p<0.001). Mortality was significantly higher in older-old persons (>80 years) compared to younger older persons (26.5% vs 14.2%; OR 2.19, p=0.012).

Conclusion: Both conservative management and interventional therapies demonstrate effectiveness in older-old persons with stroke when appropriately selected. Age-based treatment restrictions appear unjustified, supporting individualized clinical decision-making over chronological age considerations.

Longitudinal retinal and choroidal microvascular changes in carotid artery stenosis: Comparative outcomes of surgical and medical management using optical coherence tomography angiography

2026-02-24T06:02:28+00:00

Background & Objective: Carotid artery stenosis (CAS) is a major cause of chronic cerebral hypoperfusion and ischemic stroke. Because retinal circulation originates from the internal carotid artery, optical coherence tomography angiography (OCTA) may serve as a non-invasive surrogate marker of cerebral microvascular compromise.

Methods: Forty-six patients with CAS (92 eyes) and 41 healthy controls (41 eyes) were enrolled. Ipsilateral stenotic eyes were classified as Group 1, contralateral fellow eyes as Group 2, and controls as Group 3. Stenotic eyes were further subdivided into surgically treated (Group 1A) and medically managed (Group 1B) subgroups. Layer-specific OCTA and structural OCT parameters were assessed at baseline and at 1, 3, and 6 months. The predefined primary outcome was deep capillary plexus (DCP) inner vessel and perfusion density.

Results: At baseline, stenotic eyes demonstrated significantly reduced vessel and perfusion density across retinal and choroidal layers compared with controls (all p < 0.05). During follow-up, surgically treated eyes showed significant recovery in DCP inner metrics, whereas medically managed eyes exhibited smaller and less consistent changes. Several secondary choroidal parameters also improved gradually after revascularization. By month 6, multiple vascular indices in Group 1A approached values observed in contralateral non-stenotic eyes. Structural measures (RNFL and GCC thickness) showed modest, delayed improvement predominantly in the surgical subgroup.

Conclusions: CAS is associated with diffuse retinal and choroidal microvascular impairment. OCTA- derived parameters, particularly deep capillary plexus metrics, may represent accessible biomarkers of downstream hemodynamic compromise and microvascular recovery following intervention.

Erdun-Ujile plus tirofiban for progressive ischemic stroke: a single-centre retrospective cohort from Inner Mongolia

2026-02-09T12:26:18+00:00

Background & Objective: Progressive ischaemic stroke (PIS) is associated with early neurological worsening and poor outcome, and optimal acute management remains uncertain. In some centres, tirofiban is used as an off-label rescue antiplatelet strategy in selected patients, but evidence is still evolving. We evaluated the efficacy and safety of adding the Mongolian medicine Erdun-Ujile to tirofiban in patients with PIS in Inner Mongolia, China.

Methods: We retrospectively analysed 140 patients with PIS admitted between October 2022 and October 2024. Patients received Erdun-Ujile plus tirofiban (n=70) or tirofiban alone (n=70) for 14 days. Day-14 neurological deficit (NIHSS), disability (mRS), swallowing function (Kubota test), and overall clinical response were compared, together with changes in platelet-to-lymphocyte ratio (PLR), triglyceride–glucose (TyG) index, haemoglobin, and adverse events.

Results: Compared with tirofiban alone, Erdun-Ujile plus tirofiban was associated with greater 14-day improvement in NIHSS, mRS and Kubota scores and a higher overall response rate, without an increase in bleeding or other adverse events. Declines in PLR and TyG tended to favour the combination group, although between-group differences were not statistically significant.

Conclusions: In this retrospective cohort, adding Erdun-Ujile to tirofiban improved short-term neurological, functional and swallowing outcomes with acceptable safety. Erdun-Ujile may be a useful adjunctive therapy for progressive ischemic stroke in Asian settings and warrants confirmation in prospective trials.

Multimorbidity and functional motor and balance outcomes post-stroke: A retrospective analysis across all age groups

2026-02-09T12:15:28+00:00

Background & Objective: Multimorbidity is defined as the co-existence of two or more chronic conditions, which is common in stroke survivors and may influence their functional recovery. However, its impact on post-stroke outcomes remains poorly understood especially in a lower-to-middle income country. This study aimed to describe the distribution and severity of multimorbidity among post-stroke patients and examine its association with sociodemographic and clinical factors and its correlation with motor and balance outcomes; and to examine predictors of functional these outcomes.

Methods: This is a retrospective cross-sectional study on medical records of patients with first-time ischemic or hemorrhagic stroke referred to the physiotherapy division, in Universiti Malaya Medical Centre between January 2022 and December 2023. Inclusion criteria included age ≥18, at least two chronic conditions, and availability of Motor Assessment Scale (MAS) and/or Berg Balance Scale (BBS) scores. Multimorbidity was measured using the Charlson Comorbidity Index (CCI). Functional motor performance and balance were assessed using the Motor Assessment Scale (MAS) and Berg Balance Scale (BBS), respectively at an average of 6.5 months post-stroke (SD = 2.61). Statistical methods included Chi-square test, Spearman’s correlation, and multiple linear regression.

Results: A total of 384 patients were included in the analysis. Most patients (83.3%) had severe multimorbidity (CCI ≥5). The most common comorbidity was diabetes (48.9%) followed by dementia (17.2%). CCI severity was significantly associated with age group (p<0.0001) and ethnicity (p=0.010). No significant correlation was found between CCI and MAS (ρ = –0.014, p=0.870) or BBS (ρ = 0.073, p=0.258). Age was the only significant predictor of MAS (B = –0.322, p=0.016). CCI did not predict MAS or BBS outcomes.

Conclusions: Although multimorbidity is highly prevalent in post-stroke patients and associated with demographic factors, it was not significantly related to functional motor and balance performance. Age remains a key factor influencing functional motor performance. These findings emphasize the need for individualized rehabilitation strategies especially in the older stroke survivors.

The Needs of Parents Caring for Children with Epilepsy Questionnaire (NPCEQ-TR): Turkish adaptation, validity, and reliability study

2026-03-28T14:35:02+00:00

Objectives: This study aimed to translate the Needs of Parents Caring for Children with Epilepsy Questionnaire (NPCEQ) into Turkish (NPCEQ-TR) and evaluate its psychometric properties, including validity and reliability, within a Turkish cultural context.

Methods: A cross-sectional and methodological design was employed. Data were collected online from 310 parents of children with epilepsy in 2025. The adaptation process followed international guidelines and included translation, back-translation, content validation, and pilot testing. Construct validity was examined through confirmatory factor analysis (CFA). Internal consistency was assessed using Cronbach’s alpha and McDonald’s omega coefficients.

Results: The content validity indices were satisfactory (I-CVI = 0.80– 1.00; S-CVI = 0.91). The KMO value (0.952) and Bartlett’s test (χ² = 5173.501, p < .001) confirmed that the data were suitable for factor analysis. CFA supported the original five-factor structure, with fit indices indicating an excellent model fit (χ²/df = 1.27; CFI = 0.976; TLI = 0.974; RMSEA = 0.030). Cronbach’s alpha and McDonald’s omega coefficients ranged from 0.770 to 0.930 for the subscales, and were 0.958 and 0.950, respectively, for the total scale.

Conclusion: The NPCEQ-TR demonstrated strong construct validity, high internal consistency, and cultural relevance. It is a reliable and practical instrument for assessing the multidimensional needs of parents caring for children with epilepsy, and it can be utilized effectively in family-centered nursing and psychosocial interventions in Turkey.

From tremor to myoclonus associated with valproate: Clinical insights and polymyographic evaluation

2026-02-26T10:01:46+00:00

Objectives: We aimed to perform clinical and polymyography analyses in patients with epilepsy to assess characteristics of involuntary movements associated with valproate.

Method: All consecutive patients who used valproate for epilepsy were included in the study. We performed a detailed examination and polymyography recordings on the upper extremities at rest, with arms outstretched, during loading, action, and fine hand movements. We determined the type and characteristics of abnormal movements, as well as the clinical findings associated with these movements.

Results: We included 63 patients in the study, identifying 45 (71.2%) with tremor and 20 (31.7%) with myoclonus. All patients with myoclonus also had tremor. Valproate-induced tremor was postural, mild, and associated with low- dose valproate, compared to patients without tremor (n=18). Although mild to moderate, a positive correlation was found between tremor severity, as measured by the Fahn-Tolosa-Marin tremor rating scale, and the duration of valproate use (p=0.026, r=0.328). Distal myoclonus was prominent and appeared in repetitive bursts (polyminimyoclonus), clinically mimicking tremor. It was equally present in patients with focal epilepsy. Patients with myoclonus had higher serum valproate levels than those without myoclonus.

Conclusions: Tremor was common, primarily mild and postural, and associated with low-dose valproate. The severity increased with the more prolonged use. Higher serum levels of valproate triggered myoclonus, even in patients with focal epilepsy. Polymyography is needed to distinguish tremor and myoclonus.

Reliability of provocative tests in determining the severity of carpal tunnel syndrome

2026-03-24T03:58:10+00:00

Background & Objectives: Electrodiagnostic study is the most frequently used diagnostic tool in confirming and grading carpal tunnel syndrome (CTS) severity. However, limited availability of electrodiagnostic tools in rural areas hinders its applicability in CTS diagnosis and grading. This study intends to seek the relationship between CTS provocative tests and the degree of CTS severity.

Methods: This is a cross-sectional study. Patients with symptoms of CTS were included in the study. Provocative tests (Tinel sign and Phalen’s test) were done in clinical setting followed by electroneurography in both hands of each patient. The Phalen test was performed with the wrist held in maximum passive flexion for 60 seconds, and the Tinel sign was elicited by tapping over the volar wrist crease. Both tests were considered positive if paresthesia or numbness in the median nerve distribution was reproduced. CTS diagnosis was confirmed by electroneurography (ENG) using standard nerve conduction criteria, and CTS severity was graded using Bland’s Neurophysiological grading scale. The relationship between provocative tests and CTS severity were analyzed using bivariate chi-square analysis.

Results: Forty-eight patients (87 hands) were included in this study. Most patients had bilateral CTS. Neurophysiological study confirmed 87 median nerve impingements, mostly of grade III. Positive provocative test (either Tinel/Phalen or both) was significantly related to CTS severity. The number of positive provocative tests according to CTS severity were as follows: 1/18 (5.6%) positive for one test in grade I, 14/17 (82.4%) positive for one test in grade II, 25/30 (83.3%) positive for one test and 5/30 (16.7%) positive for both tests in grade III, and 17/17 (100%) positive for both tests in grade IV and 5/5 (100%) in grade V.

Conclusions: Positive results of both provocative tests are consistent with more severe CTS.

Dual burden of ocular myasthenia gravis: A multicentre study of visual and psychosocial impact in a Malaysian cohort

2026-03-24T03:51:45+00:00

Background: Ocular myasthenia gravis (OMG) is a neuromuscular junction disorder characterised by fluctuating ptosis and variable ophthalmoplegia. While its motor manifestations are well recognised, the effects of OMG on vision-related quality of life (VRQoL) and psychological well-being remain underexplored.

Methods: This one-year multicentre cross-sectional study recruited 118 patients with OMG from four tertiary hospitals in Malaysia. VRQoL was assessed using the Visual Function Index-14 (VF-14), and psychological status using the Hospital Anxiety and Depression Scale (HADS). Associations with clinical and sociodemographic factors were examined using regression analyses.

Results: Patients had a mean age of 44.76 (SD 1.57) years and a mean disease duration of 4.31 (SD 0.28) years. The mean VF-14 score was 3.58 (SD 0.09), with visually demanding activities, such as reading small print and navigating steps, significantly more impaired than low-demand tasks. The mean HADS-D score was 4.92 (SD 4.12), with 51.7% of participants reporting mild to moderate depressive symptoms, whereas anxiety was uncommon (mean HADS-A 0.97, SD 1.34; 1.7% mild symptoms). Depressive symptoms were significantly associated with being single, ptosis affecting cosmesis, and work impairment due to OMG, while longer disease duration was protective. Anxiety was associated with younger age, Malay ethnicity, being single, systemic comorbidities, and work impairment.

Conclusions: Despite preserved visual acuity, fluctuating ptosis and diplopia significantly impair daily functioning and psychological well-being in OMG. The dissociation between relatively preserved visual function and emotional distress highlights the need for integrated care, including routine psychological screening, to improve overall quality of life.

Iatrogenic botulism after botulinum meurotoxin exposure: A contemporary case series with clinical and electrophysiological insights

2026-02-22T05:35:56+00:00

Backgorund & Objective: Iatrogenic botulism is a rare but potentially serious complication of botulinum neurotoxin (BoNT) use, increasingly recognized in association with cosmetic and therapeutic applications. This study aimed to describe the clinical characteristics, diagnostic challenges, electrophysiological findings, management strategies, and outcomes of patients with iatrogenic botulism.

Methods: We retrospectively analyzed ten patients diagnosed with iatrogenic botulism who were evaluated and followed at a tertiary neurology center between 2019 and 2025. Demographic characteristics, indications for BoNT administration, time to symptom onset, initial clinical manifestations, electrophysiological findings, treatments, and clinical outcomes were systematically reviewed.

Results: The cohort consisted predominantly of female patients, with therapeutic and cosmetic indications—most commonly migraine prophylaxis and facial aesthetic procedures—being the leading causes of BoNT exposure. Initial symptoms included cranial nerve involvement such as ptosis, diplopia, dysarthria, and dysphagia, frequently accompanied by generalized weakness, blurred vision, nausea, and vomiting. Electrophysiological studies revealed presynaptic neuromuscular junction dysfunction, characterized by low-frequency decremental responses and high-frequency or post-exercise incremental responses on repetitive nerve stimulation, as well as increased jitter on single-fiber electromyography. Treatment strategies included botulinum antitoxin administration and adjunctive pyridostigmine therapy, along with supportive care. Clinical outcomes were favorable in all patients, with gradual and complete neurological recovery observed over days to weeks.

Conclusion: This case series highlights the evolving clinical spectrum of iatrogenic botulism and emphasizes the importance of early clinical recognition, appropriate electrophysiological evaluation, and timely management. Increased awareness and stricter regulation of BoNT use are essential to prevent this potentially avoidable complication.

Correlation between cystatin C and ALS: A cohort study and meta-analysis

2026-03-27T04:25:20+00:00

The study aimed to explore the prognostic role of cystatin C (Cys C) in amyotrophic lateral sclerosis (ALS). Patients with sporadic ALS were consecutively recruited and follow-up. Blood tests of Cys C were conducted at the first time of evaluation. Online database was systematically searched to identify studies on Cys C and ALS. Meta-analyses were conducted to provide evidence for clinical application of Cys C in ALS. A total of 143 ALS patients with available data of Cys C were included in our analysis. Correlation analyses revealed serum levels of Cys C were positively correlated with lower motor neuron (LMN) score (rho=0.180, p=0.032). Pooled results suggested that serum level of Cys C was significantly higher in ALS population than that in healthy controls (HCs) (MD 0.50, 95%CI 0.43- 0.57). In cerebrospinal fluid (CSF), the level of Cys C was predominantly higher in HCs than that in ALS (MD 0.32, 95%CI 0.12-0.53). There was a positive correlation between serum level of Cys C and progression rate in ALS (rho=0.18, 95%CI 0.10-0.25). Serum level of Cys C was a predictor of death or invasive respiratory support of ALS patients (HR 1.33. 95%CI 1.18-1.51). The level of Cys C was significantly elevated in serum and decreased in CSF among ALS population compared to HCs. Serum level of Cys C was significantly higher in patients with severe LMN involvement, and might act as a potential predictor of ALS progression and death.

Bioinformatics analysis of the alterations in neuregulin 1/4 and their correlation with ferroptosis-related genes in amyotrophic lateral sclerosis

2026-02-19T04:35:45+00:00

Background & Objective: Dysregulation of the ErbB4 signaling pathway has been implicated as a significant factor in the pathogenesis of amyotrophic lateral sclerosis （ALS）, with neuregulin 1 (NRG1) and NRG4 serving as key regulatory ligands of ErbB4. This study mainly employs bioinformatics approaches to investigate the association between changes in ferroptosis-related genes and NRG1/4 in ALS.

Methods: Differentially expressed genes (DEGs) in ALS spinal cord tissue were identified from the GEO database, with a focus on ferroptosis-related genes sourced from FerrDb. Subsequent protein-protein interaction (PPI) network was constructed using Cytoscape software. The expression levels of NRG1 and NRG4 in ALS were then examined, followed by a correlation analysis between these genes and main ferroptosis-related DEGs in ALS.

Result: In the anterior horn tissue, 6 ferroptosis-related genes were downregulated and 3 were upregulated, whereas in motor neurons, 11 ferroptosis-related genes were upregulated and 8 were downregulated. In normal anterior horn tissues, NRG4 exhibits a positive correlation with MAP3K14, whereas in anterior horn tissues of ALS patients, it is positively correlated with PANX2. In motor neurons, NRG1 was negatively correlated with JUN, SLC7A11, and PANX2 in ALS. Additionally, NRG4 was negatively correlated with TIMP1, SOX2, and AR in normal controls, and with CFL1 and JUN in ALS. PANX2 showed a positive correlation with both NRG1 and NRG4 in both normal controls and ALS patients.

Conclusion: The bioinformatics analysis results underscore the potential of NRG1/4 signaling in mitigating ALS by regulating specific ferroptosis-related genes.

Deep transcranial magnetic stimulation is superior to normal in motor-evoked potentials

2026-02-06T07:26:48+00:00

Background: Deep transcranial magnetic stimulation (dTMS) using an H7 coil is widely applied in the treatment of several neurological diseases. However, whether dTMS with an H7 coil is superior to figure-of-eight coil transcranial magnetic stimulation (TMS) for neurophysiological assessment remains unclear.

Methods: This study compared the latency and amplitude of motor-evoked potentials (MEPs) induced by dTMS with an H7 coil and figure-of-eight coil TMS in the lower-extremity region of the primary motor cortex (M1) in healthy individuals.

Results: dTMS with the H7 coil demonstrated a significantly higher elicitation rate for resting MEPs than figure-of-eight coil TMS, whereas no significant difference was observed for facilitated MEPs. The latency and amplitude of both resting and facilitated MEPs differed significantly between the two stimulation methods. Significant differences in elicitation rate and amplitude were observed between resting and facilitated MEPs, but no latency difference was detected. No significant differences in elicitation rate, latency, or amplitude were observed between the left and right sides for MEPs induced by either stimulation technique.

Conclusions: dTMS with an H7 coil is an effective method for eliciting resting MEPs in the lower extremity but does not outperform figure-of-eight coil TMS for facilitated MEPs. The responsiveness is influenced by facilitation status but not by handedness.

The moderating effect of age on the association between homocysteine levels, third ventricular width and cognitive function in Parkinson’s disease

2026-01-31T02:05:22+00:00

Objectives: This study aimed to explore the moderating effect of age on the relationships between homocysteine (Hcy) levels and cognitive function, as well as between third ventricular (V3) width and cognitive function in patients with Parkinson’s disease (PD).

Methods: We enrolled 237 PD patients and categorized them into two groups based on Montreal Cognitive Assessment (MoCA) scores: 65 patients with normal cognition (PDNC) and 172 patients with cognitive impairment (PDCI). All subjects underwent transcranial sonography and laboratory analysis to measure V3 width and Hcy levels, respectively.

Results: Multiple regression analysis with interaction terms revealed significant moderating effects of age on both Hcy-cognition (p < 0.001) and V3-cognition (p = 0.005) relationships. Simple slope analysis demonstrated that the negative impacts of both V3 width and Hcy levels on cognitive function intensified with advancing age (V3: β = -0.654 in younger patients vs. β = -1.260 in older patients; Hcy: β = -0.082 in younger patients vs. β = -0.531 in older patients). No significant interaction was observed between V3 width and Hcy levels on cognitive function (p = 0.074).

Conclusions: Age significantly moderated the relationships between V3 width, Hcy levels, and cognitive function in PD patients, with older patients showing greater cognitive vulnerability to elevated Hcy and ventricular enlargement.

Vitamin D deficiency in restless legs syndrome and chronic venous insufficiency: A comparative study

2026-01-31T02:14:43+00:00

Background & Objectives: Restless legs syndrome (RLS) and chronic venous insufficiency (CVI) are prevalent disorders with overlapping symptoms, complicating diagnosis. Vitamin D deficiency has been linked to neurological and vascular diseases, yet direct comparisons between RLS and CVI are scarce. This multicenter study evaluated serum vitamin D levels in patients with RLS, patients with CVI without RLS, and healthy controls to clarify disorder-specific associations.

Methods: We retrospectively analyzed 381 participants aged 18–65 years (127 RLS, 127 CVI, 127 controls) between October 2022 and March 2025. Demographic and biochemical parameters, including 25(OH)D, calcium, phosphorus, creatinine, and parathyroid hormone (PTH), were compared. Correlation analyses assessed relationships with disease duration and severity.

Results: Mean serum vitamin D was significantly lower in RLS (18.0 ± 9.4 ng/mL) and CVI (20.1 ± 6.6 ng/mL) compared with controls (24.8 ± 10.0 ng/mL, p<.001). Deficiency (<20 ng/mL) was found in 64.6% of RLS and 56.7% of CVI patients versus 27.6% of controls. In RLS, vitamin D levels negatively correlated with disease duration (r= –0.25, p=.032) and severity (r= –0.48, p<.001). In CVI, lower vitamin D correlated with longer disease duration (r= –0.28, p=.018) and higher clinical stage (r= –0.26, p<.001). PTH was significantly elevated in both patient groups.

Conclusions: Vitamin D deficiency is highly prevalent in RLS and CVI and correlates with disease burden, particularly in severe RLS. These findings indicate an association between reduced vitamin D levels and disease burden in both RLS and CVI, without implying a causal relationship. Routine screening of vitamin D status may be considered as part of clinical evaluation, although interventional implications require confirmation in prospective studies

The relationship between autonomic symptoms and quality of life in patients with migraine: A multicenter cross-sectional observational study

2026-02-24T12:19:41+00:00

Background & Objectives: Migraine is a complex disorder that negatively affects the quality of life. Interictal or ictal cranial autonomic symptoms (CASs) are observed in migraine; however, data regarding extracranial autonomic symptoms (ECASs) are limited. This study aimed to evaluate autonomic symptoms in patients with migraine and to investigate the relationship between these symptoms and the quality of life.

Method: The study was designed as a cross-sectional observational study. Ictal CASs in migraine were assessed. Participants completed the Composite Autonomic Symptom Scale (COMPASS-31), Migraine Disability Assessment Score (MIDAS), Headache Impact Test (HIT-6) and Migraine-Specific Quality-of-Life Questionnaire (MSQoL). The relationships between autonomic symptoms, headache characteristics and scale scores were analyzed. Patients were categorized as having episodic or chronic migraine, and migraine with or without aura. Data were compared across all patient groups and healthy controls.

Results: The most common ictal CASs in patients with migraine were lacrimation (38.3%, n = 69) and conjunctival injection (28.3%, n = 51). COMPASS-31 scores were significantly higher in patients with migraine compared with healthy controls (p = 0.001). Higher COMPASS-31 scores were also observed in patients with migraine with aura and in those with greater disability (MIDAS grades 3-4) (p = 0.009, p = 0.001). Additionally, a moderate negative correlation was detected between total COMPASS-31 scores and the MSQoL scores (p = 0.001, r = -0.410).

Conclusions: Autonomic symptoms are common in patients with migraine, especially in migraine patients with aura. These symptoms are associated with lower quality of life and higher disability levels.

Serum atherogenic index in migraine subtypes and disease duration

2026-04-09T06:59:52+00:00

Background: Migraine has been associated with an increased risk of vascular disease, and the atherogenic index of plasma (AIP) has been proposed as a potential marker of cardiovascular risk. However, the relationship between AIP and migraine subtypes as well as disease duration remains unclear.

Methods: This retrospective cross-sectional study included 99 patients with migraine with aura (MwA), 104 patients with migraine without aura (MwoA), and 100 healthy controls. Clinical and laboratory data were obtained from medical records. AIP was calculated as the logarithmic ratio of triglycerides to high-density lipoprotein cholesterol. Correlation and partial correlation analyses were performed to assess the association between AIP and disease duration, with adjustment for age, sex, and migraine severity. Multinomial logistic regression analysis adjusted for age and sex was used to evaluate the independent association of AIP with migraine subtypes.

Results: AIP levels were significantly higher in patients with MwA compared to controls. AIP showed a significant positive correlation with disease duration in both MwoA (r=0.860, p<0.001) and MwA (r=0.751, p<0.001), and this association remained significant after adjustment for age, sex, and migraine severity. Receiver operating characteristic analysis demonstrated modest discrimination of MwA from controls (AUC=0.630, p=0.002). In multinomial logistic regression analysis adjusted for age and sex, AIP was not independently associated with migraine subtypes (MwA or MwoA).

Conclusion: AIP may be associated with migraine subtype and disease duration; however, this association was not independent after adjustment for confounding variables, and its independent predictive value appears limited.

Performance comparison of large language models in interpreting clinical guidelines for migraine prevention: A multidimensional analysis

2026-03-19T12:37:10+00:00

Background & Objective: Large language models (LLMs) such as DeepSeek-R1, Gemini-2.5 Pro, ChatGPT-5 Thinking, and Grok-4 Expert are increasingly applied in medical contexts, yet their reliability in evidence-based clinical domains like migraine prophylaxis remains uncertain. This study aimed to compare the performance of four leading LLMs in interpreting and applying the International Headache Society’s global practice recommendations for preventive pharmacological treatment of migraine.

Methods: Sixteen standardized clinical scenario questions derived from the IHS guideline were presented identically to each model. Responses were evaluated by blinded expert raters across five dimensions—Accuracy, Overconclusiveness, Supplementary Value, Incompleteness, and Readability—using a 10-point Likert scale. Readability was further analyzed using composite indices from readabilityformulas.com.

Results: No significant inter-model differences were observed in Accuracy (P = 0.856), Overconclusiveness (P = 0.400), or Incompleteness (P = 0.531). However, DeepSeek-R1 provided significantly more Supplementary Information than Gemini-2.5 Pro (P = 0.010) and Grok-4 Expert (P = 0.030). Readability analysis further revealed substantial variation across models (P < 0.001), with DeepSeek-R1 generating the most accessible outputs.

Conclusion: While all four models exhibited comparable adherence to guideline-based content, DeepSeek-R1 demonstrated superior performance in supplementary informational value and readability. These findings highlight the importance of evaluating LLMs not only for accuracy but also for their capacity to enhance clinical communication and decision support.

Depression and anxiety in relation to headache- related disability: A cross-sectional subanalysis of the Philippine Neurological Association One Database (PNA1DB)

2026-02-19T12:44:08+00:00

Background & Objective: Headache disorders are a leading cause of disability. Beyond attack frequency and intensity, psychological distress may contribute to functional impairment, but data from Filipino populations are limited. The objective of this study is to determine whether depression and anxiety are independently associated with headache-related disability as measured by the Migraine Disability Assessment (MIDAS) in a Filipino clinical cohort; to describe levels of disability and psychological distress; and to examine subgroup differences across selected sociodemographic and clinical characteristics.

Methods: We conducted a cross-sectional secondary analysis of de-identified adult records from the Philippine Neurological Association One Database–Headache (PNA1DB– Headache) from June 1, 2021 to June 30, 2025. Primary headache cases with complete MIDAS, depression, and anxiety data were included. Demographic and clinical characteristics were summarized descriptively. Because MIDAS scores were non-normally distributed, associations between MIDAS and mood scores were examined using Spearman’s rank correlation. Group differences in MIDAS were assessed using Mann–Whitney U and Kruskal–Wallis tests with Dunn–Holm post hoc comparisons. Multivariable linear regression with robust standard errors was used to identify independent predictors of disability, adjusting for age, sex, headache phenotype, monthly headache days, headache severity, and prophylactic medication use.

Results: Of 1,100 registry records, 527 primary headache cases met inclusion criteria. MIDAS grades were: little/no disability 52.4%, mild 21.8%, moderate 13.5%, and severe 12.3%. Mean depression and anxiety scores were 4.6 ± 4.0 and 5.6 ± 4.6, respectively. MIDAS correlated positively with depression (ρ = 0.488, p < .001) and anxiety (ρ = 0.475, p < .001). In multivariable regression, depression (B = 0.691, p < .001) and anxiety (B = 0.386, p = .031) were independently associated with higher MIDAS scores. Compared with migraine with aura, migraine without aura and unspecified primary headache were associated with greater disability, while monthly headache days, sex, and prophylactic medication use were not independently significant.

Conclusions: In this registry-based cohort, both depressive and anxiety symptoms were independently associated with greater headache-related disability, with depression demonstrating the stronger effect. These findings support integrating routine mood screening and biopsychosocial management into standard headache care in the Philippines.

A bibliometric analysis of meta-analyses in multiple sclerosis: Publication trends, thematic structures, and collaboration networks

2026-02-05T18:10:07+00:00

Background & Objective: Multiple sclerosis (MS) is a complex neurological disorder with a growing body of meta-analytical research. However, the bibliometric structure, thematic trends, and collaborative patterns of this literature have not been systematically assessed. The objective of this study was to conduct a comprehensive bibliometric analysis of meta-analyses related to MS, identifying publication trends, thematic structures, key contributors, and international collaboration networks.

Methods: A total of 932 meta-analyses published between 1995 and 2026 were included. Analyses were conducted using the Biblioshiny interface of the Bibliometrix R package. Bibliometric indicators and network- based methods, including co-authorship, co-citation, keyword co-occurrence, and thematic mapping, were applied.

Results: The number of MS-related meta-analyses increased steadily, with an annual growth rate of 2.26%, and a notable rise after 2010. The most prolific authors were Mirmosayyeb O., Shaygannejad V., and Ghajarzadeh M. The United States and the United Kingdom held central roles in international collaboration networks. Keyword co-occurrence analyses showed growing attention to patient-centered outcomes such as fatigue, disability, and quality of life. Nevertheless, thematic mapping indicated that diagnostic and epidemiological topics remain the most developed and central.

Conclusions: Meta-analytic research in MS has grown substantially, reflecting increasing methodological rigor and global collaboration. While traditional clinical themes dominate, patient-centered and rehabilitation-related topics are emerging yet underrepresented. Targeting these gaps may enhance future MS research.

Rheumatologic profile in CNS demyelinating disorders

2023-10-04T06:55:49+00:00

Background & Objectives: Multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD) are central demyelinating disorders that have an autoimmune inflammatory etiology. The aim of the present study is to assess the frequency of seropositivity for autoantibodies and other rheumatologic serum markers in patients with CNS demyelinating diseases and to determine whether the seropositivity for autoantibodies differs between MS, anti-AQP4 positive and anti-AQP4 negative NMOSD, and MOGAD within Indian population in Rajasthan.

Methods: This is an analytical cross-sectional study that included all consecutive patients presenting with CNS demyelinating diseases during the period June 2021 to June 2023. The following information was collected from the patient: demographics; clinical syndrome of presentation, serum aquaporin-4 antibody, serum MOG antibody and CSF oligoclonal bands. Rheumatological profile including antinuclear antibody (ANA), rheumatoid factor (RF) antibodies, anti-dsDNA, erythrocyte sedimentation rate (ESR), C reactive protein (CRP) and anti neutrophil cytoplasmic antibody tests (both p & c ANCA) was investigated. Demographic and clinical characteristics were described in terms of absolute and relative frequencies. Rheumatologic profiles was compared across these diseases.

Results: ANA and Anti dsDNA was significantly higher in NMOSD as compared to MS and MOGAD patients. Similarly, an insignificant increase in frequency of seropositivity for CRP, RA factor and ESR was noted in NMOSD.

Conclusion: Serum rheumatologic markers such as ANA, Anti dsDNA, ESR, CRP and RA factor are related to CNS demyelination. Further studies may be needed to determine the long term significance of these markers.

Glymphatic dysfunction in autoimmune encephalitis: A prospective assessment with MR DTI-ALPS index

2026-02-18T09:44:35+00:00

Objective: This study aimed to evaluate glymphatic system function in patients with Autoimmune Encephalitis (AE) by utilizing the Diffusion Tensor Imaging Along the Perivascular Space (DTI- ALPS) index, with the goal of exploring its relationship with clinical outcomes.

Methods: Fifty three AE patients and 33 healthy controls (HCs) were enrolled and underwent 3T MRI examinations incorporating DTI sequences. To achieve this objective, the ALPS index, which derived by quantifying diffusivity within the perivascular spaces (PVS) surrounding the lateral ventricles, was computed. To evaluate disease progression, the modified Rankin Scale (mRS) was employed for severity assessment. Additional, relationships between the ALPS value, clinical evaluation results, and cerebrospinal fluid (CSF) indicators (including white blood cell count, total protein concentration) were explored through statistical analysis.

Results: AE patients showed significantly lower ALPS indices compared to HCs (1.34 ± 0.12 vs. 1.43 ± 0.12, p < 0.001). A moderate negative correlation was observed between the ALPS index and mRS scores (r = -0.66, p < 0.001). Among anti-NMDAR encephalitis cases, the ALPS indices recorded were found to be the lowest at 1.28 ± 0.09. The ALPS index showed a weak inverse relationship with CSF protein levels (r = -0.44, p = 0.013) but not with CSF WBC count. Early immunotherapy responders demonstrated significant glymphatic functional recovery, corresponding to an increase in the ALPS index from 1.35 ± 0.13 to 1.41 ± 0.13 (p < 0.001).

Conclusion: The ALPS index shows great potential as a non-invasive biomarker for evaluating glymphatic system impairment, and it might also be useful for tracking how well patients respond to various therapeutic interventions in the context of AE. These results indicate that glymphatic system impairment could play a role in the disease process underlying AE.

The relationship between pupil response and type 1 diabetes mellitus in children: A case-control study

2026-03-09T06:17:00+00:00

Objective: This study aimed to compare pupil measurements obtained with the Sirius topography device in children with type 1 diabetes with the systemic and ocular findings of the subjects.

Methods:This study involved 41 pediatric cases of type 1 diabetes mellitus (DM) and 41 control cases. Key outcome parameters included pupil diameter and the average rate of pupillary dilation. Both static and dynamic pupillometric assessments were conducted using the Sirius Topographer (CSO, Florence, Italy).These findings were further evaluated in relation to retinal nerve fiber layer thickness and ganglion cell layer thickness measurements.

Results: A statistically significant negative correlation was identified between HbA1c levels and certain dynamic pupillometry parameters in the DM group. HbA1c was weakly and negatively correlated with 1st second pupil diameter (r=-0.204;p=0.006), moderately and negatively correlated with the 2nd second (r=-0.346; p = 0.001), 4th second (r -0.360;p= 0.001), and 6th second (r = -0.333;p=0.002), and weakly to moderately correlated with the 8th second (r=- 0.297;p=0.007) and 10th second (r =-0.319;p=0.003). These findings indicate a negative relationship, meaning that as HbA1c levels increase, dynamic pupillometry measurements tend to decrease. A weak but statistically significant positive correlation was observed between ganglion cell count and the mesopic pupil diameter, a parameter of static pupillometry, in the DM group (r=0.219;p=0.049). No significant relationship was detected between retinal nerve fiber layer thickness (RNFLT) and pupillary response measurements in the DM group (p>0.05).

Conclusions: Although dynamic pupillometry measurements in children with diabetes were not associated with the duration of the disease, a significant correlation was observed with HbA1c levels.

Cerebral creatine deficiency syndrome – A treatable cause of developmental delay - A case series and review of literature

2026-04-14T01:20:18+00:00

The cerebral creatine deficiency syndromes are inborn errors of creatine metabolism, which include two creatine biosynthesis disorders: guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine: glycine amidino transferase (AGAT) deficiency, as well as creatine transporter deficiency (CTD, SLC6A8 deficiency). They may present with a combination of symptoms such as global developmental delay, cognitive impairment, language disorder, behavioral problems, seizures, hypotonia, myopathy, and movement disorder. A high index of suspicion is necessary to identify these disorders at the earliest, as they are potentially treatable. Herewith, we present five cases of cerebral creatine deficiency syndromes.

Familial moyamoya disease with bilateral presentation associated with the RNF213 c.14429G>A variant: A mother-daughter case report

2026-03-09T05:59:03+00:00

Moyamoya disease (MMD) is a chronic idiopathic cerebrovascular disease with an undetermined etiology, characterized by stenosis or occlusion of the ends of the internal carotid arteries bilaterally and the anterior and middle cerebral arteries at their beginnings, and secondary to the formation of an abnormal vascular network at the base of the skull. We report a 12-year-old Chinese girl diagnosed with cerebral infarction and bilateral MMD. Magnetic resonance imaging (MRI) showed multiple cerebral infarctions, cerebral ischemia, and encephalomalacia. The patient’s mother, a 36-year-old female, who was the biological mother of the 12-year-old girl, presented with left limb weakness 3 years prior and was diagnosed with bilateral MMD. The mother-daughter pairs with MMD were found to be due to a heterozygous variant in the RNF213 gene c.14429G> A. Clinically both had bilateral MMD, and the disease started with lesions on the left limb. After the diagnosis of MMD, mother and daughter were treated with different surgical procedures. Genetic testing for RNF213 is suggested for family member screening.

Conclusion: Genetic testing for RNF213 is suggested for family members of MMD, and c.14429G>A variant is an important hereditary gene mutation.

Neurokinin-1 receptor antagonist therapy for post- stroke vomiting: A case report

2025-09-17T13:48:30+00:00

Post-stroke vomiting is a common but often challenging complication of cerebellar and brainstem strokes, which may be refractory to standard antiemetic therapy. We present a case of a 61-year- old male with recurrent ischemic strokes who suffered bilateral cerebellar infarcts and subsequently developed persistent vomiting during his inpatient rehabilitation stay. Despite empirical treatment with multiple classes of antiemetics, his symptoms remained unresolved. An off-label trial of aprepitant, a neurokinin-1 (NK-1) receptor antagonist typically used for chemotherapy-induced nausea and vomiting and post-operative nausea and vomiting, was initiated. The 3 day course of oral aprepitant, with a starting dose of 125mg once daily, followed by 80mg once daily for another 2 days, successfully resolved his vomiting. This case highlights the potential utility of NK-1 receptor antagonists in the management of refractory post-stroke vomiting. Cautious patient selection is paramount given their potential interactions with liver cytochrome enzymes, affecting the metabolism of anticoagulants such vitamin K antagonists (VKA) and direct oral anticoagulants (DOAC). Further studies are warranted to ascertain the efficacy and adverse effects of this novel class of antiemetics in the post stroke population.

Isolated painful abducens nerve palsy as a presentation of indirect carotid-cavernous fistula

2026-04-08T06:41:58+00:00

Indirect carotid-cavernous fistula (CCF) is a low-flow, vascular condition that may present with subtle and easily overlooked clinical features, sometimes resembling more common diagnosis such as microvascular neuropathy. We describe a 40-year-old man with poorly controlled diabetes and an active smoker, who presented with progressive left retrobulbar pain and binocular horizontal diplopia. Examination revealed an isolated left eye abduction limitation with the presence of mild corkscrew conjunctival vessels on the affected eye. Magnetic resonance imaging and angiography demonstrated bilateral distal internal carotid artery stenosis without an aneurysm. Digital subtraction angiography confirmed a left indirect CCF. The patient experienced early symptomatic improvement after angiography and was managed conservatively with near-complete resolution. This case highlights the importance of recognising subtle clinical signs and considering vascular causes in patients presenting with atypical cranial nerve palsies.

Scrub typhus and intracranial hypertension: A rare but crucial mimicry of idiopathic intracranial hypertension

2026-02-24T09:43:25+00:00

Scrub typhus is a rickettsial disease caused by Orientia tsutsugamushi, transmitted by infected chiggers, and is commonly associated with acute febrile illness, thrombocytopenia, and eschar formation at the site of the bite. Neurological manifestations, including meningitis, encephalitis, and encephalopathy, are common, though rarer complications such as stroke and optic neuritis can occur. This report highlights an unusual complication of scrub typhus, presenting with idiopathic intracranial hypertension leading to papilledema and retinal hemorrhages in a 32-year-old female.

Acute axonal peripheral polyneuropathy following acute arsenic exposure in an industrial worker: A case report

2026-03-22T16:53:22+00:00

Arsenic exposure can produce diverse neurological manifestations, with acute presentations being uncommon and often misdiagnosed. Acute arsenic-induced peripheral neuropathy may mimic immune-mediated conditions such as Guillain–Barré syndrome. We report a 44-year-old industrial worker who developed acute symmetrical distal paraesthesia and sensory ataxia following ingestion of contaminated water. Examination revealed a stocking–glove sensory pattern with preserved motor strength. Laboratory evaluation demonstrated markedly elevated blood and urinary arsenic levels, confirming toxic exposure. Initial nerve conduction studies were normal, while repeat testing showed sensory–motor axonal polyneuropathy. The patient was treated with oral succimer for 14 days, resulting in clinical improvement and reduction in urinary arsenic levels. This case highlights the importance of environmental exposure history and early chelation therapy in atypical acute neuropathies.

CASPR2 antibody-associated peripheral nerve hyperexcitability presenting with neuropathic pain and insomnia

2026-03-24T04:19:51+00:00

Contactin-Associated Protein-like 2 (CASPR2) antibody-associated disorders present with a wide range of clinical features, including peripheral nerve hyperexcitability (PNH), neuropathic pain, autonomic dysfunction, and central nervous system involvement such as insomnia or encephalopathy. While immunotherapy is frequently required, spontaneous clinical improvement has been reported in a small subset of patients. The clinical presentation may vary considerably, and electrophysiological findings often play a key role in diagnosis. A 49-year-old man presented with burning pain and paresthesia affecting the hands and forearms, followed by similar symptoms in the lower extremities and deep aching pain in the thighs. Severe insomnia and mild autonomic symptoms, including diarrhea and hyperhidrosis, were also present. Neurological examination revealed distal paresthesia in a glove-and-stocking distribution. Routine laboratory investigations were unremarkable. Nerve conduction studies were within normal limits; however, low-amplitude after-discharges were observed following tibial M-wave responses. F-wave recordings demonstrated prominent after-discharges, particularly in the tibial and median nerves. Similar abnormalities were detected during low-frequency repetitive nerve stimulation. Needle electromyography revealed fasciculations, rare myokymic discharges, and increased insertional activity limited to the paraspinal muscles. Serum testing confirmed CASPR2 antibody positivity. Brain MRI, sleep EEG, and malignancy screening showed no abnormalities. By day 40, the patient experienced near-complete clinical recovery without immunotherapy, although electrophysiological abnormalities remained detectable. Oral prednisolone was subsequently initiated to reduce the risk of relapse. This case emphasizes the clinical heterogeneity of CASPR2-associated syndromes and suggests that spontaneous clinical improvement may occur even when electrophysiological findings have not fully normalized.

Unmasking distal upper limb atrophy – Hirayama disease

2026-02-03T16:18:44+00:00

Hirayama disease is an uncommon, non-progressive juvenile amyotrophy that predominantly affects young Asian males. It typically presents with insidious onset distal upper limb weakness and muscle wasting without sensory involvement. Early recognition is important, as timely diagnosis can prevent disease progression. We report the case of a 28-year-old male with gradually progressive weakness and wasting of the distal upper limb muscles, exacerbated by cold exposure, and without sensory deficits. Flexion magnetic resonance imaging revealed a long-segment posterior dural detachment extending from C5 to D3 with associated cervical cord compression. Electrophysiological studies demonstrated denervation changes with preserved sensory conduction. The patient was managed conservatively with a cervical collar, following which his clinical condition stabilized. This case highlights the clinical and radiological variability of Hirayama disease. It reinforces the importance of flexion MRI in establishing an early diagnosis and supports conservative, non-surgical management in clinically stable cases.

A rare cause of femoral neuropathy: Giant cell tumor mimicking a femoral nerve sheath tumor

2026-04-24T05:49:42+00:00

Femoral neuropathy is an uncommon peripheral neuropathy typically caused by compression, trauma, or iatrogenic injury, while tumor-related involvement is rare. Giant cell tumors are mesenchymal lesions that rarely involve peripheral nerves and may mimic nerve sheath tumors on imaging, creating diagnostic challenges. We report a 33-year-old woman presenting with a two-month history of progressive right thigh pain, weakness, and muscle atrophy, initially misdiagnosed as a musculoskeletal condition without improvement on conservative therapy. Neurological examination revealed mild weakness (MRC 4/5) and reduced patellar reflex, while electrodiagnostic studies confirmed femoral neuropathy. Pelvic magnetic resonance imaging (MRI) demonstrated a well-defined ovoid lesion (0.7 × 1.3 × 3.1 cm) along the right femoral nerve, initially suspected to be a nerve sheath tumor. The patient underwent surgical tumor debulking, and histopathological as well as immunohistochemical analysis (positive for smooth muscle actin, vimentin, and CD68) confirmed giant cell tumor. Postoperatively, the patient showed improvement in neuropathic pain with gradual motor recovery. This case highlights a rare cause of femoral neuropathy and underscores the importance of a comprehensive diagnostic approach integrating clinical evaluation, electrodiagnostic studies, imaging, and histopathology to ensure accurate diagnosis and appropriate management.

Late-diagnosed congenital myasthenic syndrome due to a CHRNE mutation: a case report

2026-02-03T11:37:07+00:00

Congenital myasthenic syndromes (CMS) comprise a heterogeneous group of inherited disorders caused by genetic defects affecting neuromuscular junction transmission. Clinical manifestations range from isolated ocular symptoms to severe neonatal respiratory insufficiency. Despite symptom onset early in life, CMS is frequently underdiagnosed or misdiagnosed, most commonly as myasthenia gravis (MG), leading to prolonged diagnostic delay. We report a young woman with fluctuating muscle weakness and eyelid drooping since early childhood who had been followed for years with a diagnosis of seronegative MG. In adulthood, genetic analysis identified a homozygous nonsense mutation in the CHRNE gene, establishing the diagnosis of CMS. This case highlights the diagnostic challenges posed by CMS due to its clinical overlap with MG and emphasizes the critical role of genetic testing in patients with seronegative, treatment-resistant neuromuscular weakness.

Co-occurrence of vitiligo and sweet ageusia in a post- thymectomy Myasthenia Gravis patient in remission: A case report

2026-03-31T02:49:00+00:00

While several journals have published the co-existence of dysgeusia or vitiligo with Myasthenia Gravis (MG), none had described their co-occurrence with MG. Moreover, they usually precede the incidence of weakness, and they disappear several weeks after thymectomy. Here we present a case of a 37-year-old male post-thymectomy patient in remission who initially developed circumscribed depigmentation around the lips and fingers, before consulting us for loss of sweet taste sensation. Aside from elevated Acetylcholine Receptor Antibody (AChR Ab) (6.88 nmol/L; nv: <0.5nnmol/L), other work ups, including a repeat chest CT scan were unremarkable. A low dose prednisone resulted to slight improvement in sweet ageusia one month after initiation. In conclusion, co-occurrence of vitiligo and sweet ageusia may appear in an MG patient in remission even several years after thymectomy. While the decreased immune tolerance may have increased the risk of these non-MG symptoms, thymectomy should still be advocated among MG patients with indication as among the paraneoplastic syndromes associated with thymoma, it has relatively the worst prognosis.

From sarcopenia to a genetic diagnosis: Exercise- induced weakness and androgen insensitivity unmasking Kenedy’s disease

2026-02-27T07:32:20+00:00

Spinal and bulbar muscular atrophy, or Kennedy’s disease, is a rare, X-linked neurodegenerative disorder often misdiagnosed due to its mimicry of common musculoskeletal conditions. Diagnostic delay is typical, averaging five years. A 46-year-old male presented with a three-year history of progressive, exertional lower limb weakness and buttock pain following a minor fall. Extensive evaluations for lumbosacral radiculopathy, piriformis syndrome, peripheral arterial disease, and tendinopathy were unremarkable. Key examination findings included subtle fasciculations, and hyporeflexia, with absent of obvious atrophy. Serial bioimpedance analysis objectively demonstrated an inability to accrue skeletal muscle mass despite dedicated rehabilitation. The critical diagnostic inflection point was the recognition of previously overlooked signs of androgen insensitivity: gynecomastia and long-standing erectile dysfunction with retrograde ejaculation. This constellation of findings prompted genetic testing, which confirmed a pathologic CAG repeat expansion (48 repeats) in the androgen receptor (AR) gene. This case underscores that in males with progressive lower motor neuron symptoms, the presence of endocrine features even subtle or long-standing is paramount to distinguishing spinal and bulbar muscular atrophy from its mimics. Unexplained, exertional weakness with objective evidence of neurogenic atrophy on body impedance analysis should elevate clinical suspicion. A holistic review of systems and signs is essential to shortening the diagnostic odyssey in rare neurological diseases.

Contact lens-associated ocular allodynia in migraine: A case report highlighting peripheral sensory input in central sensitization

2026-02-21T03:34:49+00:00

Allodynia, defined as the perception of pain from stimuli that are normally non-painful, is a hallmark of central sensitization in migraine pathophysiology. While cutaneous allodynia is well-documented, the clinical significance of ocular allodynia, particularly in association with contact lens wear, remains underreported. Here, the case of a 42-year-old female with a long-standing history of episodic migraine, characterized by unilateral throbbing pain (VAS 7-8/10), nausea, and photo-phonophobia, typically triggered by sleep deprivation and menstruation was presented. The patient, a long-term user of soft contact lenses for -3.0 diopter myopia, reported a unique temporal pattern of allodynia emerging over the last two years. She described a localized hypersensitivity on the symptomatic side, occurring in the prodromal phase several hours before the headache onset. This sensation rendered contact lens wear intolerable during the attack, independent of photophobia. Ophthalmological evaluations, including intraocular pressure and fundus examinations, were unremarkable. Despite a history of chronic migraine managed with amitriptyline and onabotulinumtoxinA, her current episodic attacks reveal a distinct ocular-tactile sensitivity. To our knowledge, this is the first reported case of contact lens-related ocular allodynia in migraine. This case emphasizes the necessity of screening for ocular allodynia in contact lens users, suggesting that lens intolerance may serve as a clinical marker for evolving central sensitization in migraineurs. Further research is warranted to elucidate the trigeminovascular mechanisms underlying this specific allodynic manifestation.

Transient glabellar and diffuse facial erythema during migraine attacks: A rare autonomic manifestation

2026-04-08T06:25:53+00:00

Migraine is a primary headache disorder frequently accompanied by cranial autonomic symptoms, and recent reports have described cutaneous phenomena such as the “red forehead dot” and glabellar erythema, suggesting a link with localized autonomic dysfunction. We present two male patients with migraine who developed transient glabellar erythema during attacks. In the first case, unilateral erythema appeared during the peak of the migraine attack and resolved within 12–24 hours, whereas in the second case, symmetrical diffuse erythema involving both sides of the glabella were observed prior to headache onset and gradually regressed as the attack subsided. In both patients, neurological examination, laboratory tests, and cranial imaging were normal during the interictal period. These findings suggest that glabellar erythema may represent a rare manifestation of migraine-related autonomic dysfunction with variable distribution patterns. Recognition of this phenomenon may help prevent misdiagnosis and unnecessary diagnostic procedures.

Ultrasound-guided glossopharyngeal nerve block for glossopharyngeal neuropathy: Safe and easy to use

2026-04-18T19:34:15+00:00

A female patient who developed neuropathic pain in the left maxillary and left nasopharyngeal regions following a dental procedure was treated with carbamazepine, pregabalin, amitriptyline, and duloxetine. As the pain was resistant to medical treatment, a maxillary nerve block and a transnasal sphenopalatine ganglion block with radiofrequency thermocoagulation were performed. There was partial relief of pain. Since adequate improvement could not be achieved, a glossopharyngeal nerve block and Pulse Radiofrequency (PRF) were performed under ultrasound guidance. Significant improvement in pain was observed. In addition to treatments targeting the trigeminal nerve, it should be kept in mind that the glossopharyngeal nerve may also be affected, and a glossopharyngeal nerve block and RF neurotomy performed under ultrasound guidance should be considered as valid therapeutic options.

A rare neurological puzzle: Anti-Ma2 encephalitis linked to lung adenocarcinoma

2026-02-11T06:16:27+00:00

Anti-Ma2 encephalitis is a rare paraneoplastic syndrome, mainly associated with germ cell tumors of the testis. This case report represents an atypical presentation of anti-Ma2 encephalitis in a 65-year- old female with lung adenocarcinoma. The patient presented with neuropsychiatric symptoms such as hallucinations and loss of recent memories and systemic symptoms of weight loss and night sweats. Evaluation showed bilateral hippocampal T2 hyperintensities on MRI and positivity for anti-Ma2 antibodies in serum. Initial treatment with corticosteroids resulted in partial symptomatic improvement; however, further relapses forced us to consider other immunotherapies such as rituximab and azathioprine. In spite of persistent memory deficits, the patient regained much of her general well-being. This case report points out early recognition and multidisciplinary management in this rare syndrome, especially in atypical oncological contexts. Careful malignancy workup and early institution of immunosuppressive therapy are important steps in improving patients’ outcomes in paraneoplastic encephalitis.

When the mimic meets reality: AQP4-IgG seroconversion in a patient with profound biotinidase deficiency presenting with an NMOSD- like phenotype

2026-04-02T10:59:13+00:00

Neuromyelitis optica spectrum disorder (NMOSD) is a chronic autoimmune inflammatory disease of the central nervous system. While aquaporin-4 immunoglobulin G (AQP4-IgG) antibodies are detected in most adult patients, seronegativity is common in pediatric and early disease stages, complicating diagnosis. Several metabolic disorders may clinically and radiologically mimic NMOSD in these settings. Biotinidase deficiency is a rare, treatable metabolic disorder reported as an NMOSD mimic. We describe a 16-year-old girl with an NMOSD-like phenotype and longitudinally extensive transverse myelitis who was initially AQP4-IgG–negative and diagnosed with profound biotinidase deficiency. Following clinical improvement with biotin supplementation, she experienced a relapse, and repeat testing revealed AQP4-IgG seroconversion, confirming coexistent seropositive NMOSD. This case illustrates that a metabolic disorder may coexist with, rather than solely mimic, NMOSD.

A rare cause of variant late-infantile neuronal ceroid lipofuscinosis: CLN8-related disease

2026-02-20T01:05:33+00:00

Neuronal Ceroid Lipofuscinosis (NCL) is a rare, inherited lysosomal storage disorder characterized by the accumulation of lipofuscin within neuronal cells, leading to progressive neurodegeneration. It is caused by pathogenic variants in at least 14 known genes, resulting in distinct clinical phenotypes. Neuronal ceroid lipofuscinosis presents with varying phenotypes depending on the age of onset and the underlying pathogenic gene variant. This case report highlights a 7-year-old boy with a variant form of late-infantile NCL, caused by a pathogenic variant in the CLN8 gene, who developed developmental regression, seizures, motor dysfunction, and vision loss. This case emphasizes the importance of early recognition, genetic testing, and MRI evaluation for timely diagnosis and management of NCL. It also underscores the need for interdisciplinary collaboration involving neurologists, geneticists, and radiologists in managing patients with neurodegenerative disorders like NCL. Early diagnosis can aid in genetic counseling, family planning, and potential intervention strategies.

Gut to brain: Celiac disease beyond the Intestine — A neurological case series

2026-04-20T11:21:28+00:00

Celiac disease (CD) is an autoimmune disorder triggered by gluten ingestion in genetically predisposed individuals, leading to small intestinal damage and malabsorption. While gastrointestinal symptoms like diarrhoea are commonly associated with CD, more than 50% of adults with the condition experience significant extraintestinal involvement, including neurological and psychiatric manifestation. The mechanisms underlying these neurological manifestations remain incompletely understood, with potential causes including gluten-mediated neurotoxicity, immune complex deposition, and associated nutritional deficiencies. In this article, we present the Indian case series highlighting immunological CNS involvement with celiac disease, where three patients, initially presenting with neurological symptoms ranging from isolated cerebellar ataxia to acute encephalopathy with psychiatric features, were diagnosed with CD. Patients showed clinical improvement following multimodal management including gluten-free diet and, in selected cases, immunotherapy. Additionally, all three patients showed substantial improvement with long-term follow-up, suggesting the importance of sustained monitoring and management in cases of neurological CD. This is a small case series from India highlighting varied neurological phenotypes associated with CD, contributing to a broader understanding of its complex presentation and management.

Knowledge, attitudes, and practices of primary care physicians regarding dementia diagnosis and management in the Philippines: A national cross- sectional survey

2026-04-09T06:21:04+00:00

Background & Objective: Dementia is increasing in low- and middle-income countries, including the Philippines, where underrecognition and limited system capacity may delay diagnosis and constrain care. Primary care physicians are central to early detection and longitudinal management, yet local evidence on preparedness remains limited. The objective of this study was to assess dementia- related knowledge, attitudes, confidence, and clinical practices among primary care physicians in the Philippines, including training needs and cultural perceptions.

Methods: A nationwide cross-sectional online survey (August 2024–June 2025) was conducted among non-neurology physicians providing primary care using a validated questionnaire. Descriptive statistics summarized responses. Exploratory factor analysis (minimum residual extraction, promax rotation) evaluated the 16-item attitude scale. Spearman correlations assessed associations among knowledge, attitudes, confidence, years in practice, and dementia case exposure. Open-ended responses underwent conventional content analysis.

Results: Among 275 respondents, the mean knowledge score (maximum 13) was 8.14 ± 2.11; 11.3% met the predefined threshold for high knowledge (≥11/13), although the 13-item checklist showed low internal consistency and item-level findings were more informative than score categories. Attitudes were generally favorable (mean 56.83 ± 6.13), and factor analysis supported a four-factor structure (KMO = 0.801; Bartlett p < 0.001), explaining 56.5% of variance. Confidence in managing behavioral and psychological symptoms of dementia was low-to-moderate (mean 2.64 ± 0.84; α = 0.91). Most physicians primarily referred suspected cases for diagnosis and management (83.1%), whereas 16.9% reported independent diagnosis and management. Among the 42 respondents who provided usable open-ended descriptions of self-management, history/collateral history and functional assessment (78.6%) and cognitive screening tools (59.5%) were most commonly reported, whereas neuroimaging (9.5%) and formal diagnostic criteria (4.8%) were uncommon. Knowledge correlated weakly with attitudes (ρ = 0.17, p < 0.01). Nearly all respondents reported needing additional training (97.5%), and online delivery was preferred (86.2%). Local terms such as ulyanin reflected normalization of dementia as aging and perceived stigma.

Conclusions: Philippine primary care physicians showed supportive attitudes but uneven dementia- related knowledge, limited confidence, and high referral dependence. Findings support skills-based primary care training and system supports to strengthen timely dementia recognition and longitudinal management.

Inflammatory pathways in cerebral ischemia- reperfusion injury: Focus on the NLRP3 inflammasome

2025-12-12T02:19:00+00:00

Cerebral ischemia-reperfusion injury (CIRI) is a severe neurological disorder characterized by exacerbated brain tissue damage and deteriorated neurological function following the restoration of blood flow after ischemia. The NLRP3 inflammasome, a multi-protein assembly triggered by diverse danger-associated signals, is critically involved in the inflammatory processes underlying CIRI. Its triggering prompts the secretion of IL-1β and IL-18, which in turn amplifies inflammatory reactions, promote neuronal apoptosis and necrosis, disrupt the blood-brain barrier, and impair neurological recovery. This review systematically examines the NLRP3 inflammasome’s structural architecture, activation mechanisms, and regulatory pathways, and discusses its close association with CIRI. Additionally, current intervention strategies targeting the NLRP3 inflammasome, including pharmacological inhibitors and traditional Chinese medicine, are summarized, along with future research directions for developing novel treatments and personalized therapies. Elucidating the detailed molecular mechanisms of the NLRP3 inflammasome in CIRI is critical for enhancing therapeutic efficacy and patient prognosis.

PERK signalling in neurodegenerative diseases: From ER stress to mitochondrial dysfunction and therapeutic opportunities

2026-02-18T09:53:50+00:00

The PERK (PKR-like endoplasmic reticulum kinase) pathway is a key branch of the unfolded protein response (UPR), and is crucial for maintaining cellular homeostasis. In neurodegenerative diseases, factors such as misfolded protein accumulation and oxidative stress lead to sustained endoplasmic reticulum stress, thereby causing excessive activation of the PERK pathway. This abnormal activation not only inhibits protein synthesis and promotes apoptosis but also disrupts critical functional connections, such as endoplasmic reticulum-mitochondria contact sites (MAMs). This disruption leads to mitochondrial dysfunction and forms a vicious cycle that drives neuronal death. This article systematically reviews the activation mechanisms of the PERK pathway in diseases such as Alzheimer’s disease and Parkinson’s disease, focusing on its role as a molecular bridge that converts endoplasmic reticulum stress into mitochondrial dysfunction. It also summarizes the latest therapeutic strategies and research progress targeting this pathway, with the aim of providing new insights for the development of neuroprotective therapies.