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Cramps as the initial presentation of CANVAS/RFC1-related disorder

PubMed - small fiber neuropathy Published 18 Sep 2026 Relevancy: 80%

Biallelic mutations in the RFC1 gene are associated with CANVAS syndrome (cerebellar ataxia, neuropathy and vestibular areflexia). Peripheral nerve involvement in the form of sensory neuronopathy and small fiber autonomic axonopathy is a core feature of its presentation. Motor manifestations, in the other hand, remain poorly understood and incompletely characterized.We present two cases referred for evaluation of muscle cramps as the main clinical symptom, who were ultimately diagnosed with...

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Bilateral pulmonary embolism in anti-NMDA receptor encephalitis presenting as acute psychosis

PubMed - autoimmune encephalitis AND misdiagnosis Published 17 Sep 2026 Relevancy: 86%

CONCLUSION: This case underscores the importance of considering autoimmune encephalitis in young patients presenting with new-onset psychosis, in the apparent absence of malignancy. A high index of suspicion and early CSF evaluation can prevent diagnostic delay and improve patient outcomes.

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MRI activity in pre-symptomatic multiple sclerosis: the role of paramagnetic rim lesions beyond the 2024 McDonald diagnostic criteria

Journal of Neurology, Neurosurgery & Psychiatry - Online First Published 15 Sep 2026 Relevancy: 88%

Background The 2024 McDonald criteria allow multiple sclerosis (MS) diagnosis in pre-symptomatic individuals but their association with MRI activity remains uncertain. We assessed whether paramagnetic rim lesions (PRL) predict future MRI activity beyond the 2024 McDonald criteria. Methods We retrospectively included individuals with incidental MRI findings suggestive of MS, ≥6 months of radiological follow-up, 3D T2*-weighted echo-planar-imaging MRI. Clinico-radiological data included PRL, central vein sign (CVS) Select-6, cerebrospinal fluid positivity, optic nerve, spinal cord involvement and disease-modifying treatment. Time to first MRI activity and annualised lesion rate (ALR) were analysed using multivariable-penalised Cox and mixed-effects Poisson models. Results Among 68 patients (mean age 38 years; 79.4% female; mean follow-up 55.7 months), 21 showed MRI activity. PRL were associated with shorter time to first MRI activity (HR 5.66, 95% CI 1.33 to 28.39, p=0.019). PRL (RR 3.45, 95% CI 1.40 to 8.47, p=0.007) and CVS positivity (RR 4.09, 95% CI 1.17 to 14.27, p=0.027) predicted higher ALR. Fulfilment of the 2024 McDonald criteria associated with increased risk of future MRI activity (HR=11.95, 95% CI 2.77 to 51.51, p=0.001; Cox regression). Adding PRL presence to the criteria changed classification performance (2=18, p<0.001; McNemar’s test), improving specificity and accuracy while reducing sensitivity. Conclusions PRL are associated with subsequent radiological activity in pre-symptomatic MS, featuring complementary predictive value beyond biomarkers currently included in the 2024 McDonald criteria.

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Comparative effectiveness of inebilizumab versus conventional immunotherapies in AQP4-IgG-positive NMOSD: a prospective cohort study with time-varying treatment effects

Journal of Neurology, Neurosurgery & Psychiatry - Online First Published 15 Sep 2026 Relevancy: 45%

Background To compare relapse and disability outcomes of inebilizumab, azathioprine (AZA), mycophenolate mofetil (MMF) and rituximab (RTX) in maintenance-therapy-naive patients with aquaporin-4 IgG-positive neuromyelitis optica spectrum disorder. Methods We prospectively enrolled 566 patients (inebilizumab n=72, AZA n=196, MMF n=170, RTX n=128). Primary effectiveness analyses were conducted in the per-protocol cohort (n=528), with supportive analyses in the full cohort. Both used inverse probability of treatment weighting to estimate the average treatment effect on the treated, with inebilizumab as reference. Primary outcomes were annualised relapse rate (ARR) and time to first relapse; disability progression was secondary. Adverse events (AEs) were assessed in the full cohort. Results In the per-protocol cohort, median age was 37 years, 477 (90.3%) were female and median follow-up was 21.5 months. Compared with inebilizumab, ARR was higher with AZA (incidence rate ratio (IRR) 4.78), MMF (IRR 4.33) and RTX (IRR 2.26; all p<0.05). Average relapse hazards were higher with AZA (HR 3.77; p=0.006) and MMF (HR 4.05; p=0.003), but not significantly different with RTX (hazard ratio (HR) 2.08; p=0.178). Time-varying analysis suggested a higher relapse hazard with RTX only during the first 6 months. Supportive analyses in the full cohort yielded consistent results. AZA and MMF were associated with greater disability progression than inebilizumab, whereas RTX was not. Severe AEs did not differ across groups. Conclusions Inebilizumab was associated with better relapse and disability outcomes than AZA or MMF. Compared with RTX, inebilizumab was associated with lower ARR, whereas no significant differences were detected in time to first relapse or disability progression.

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Pediatric multiple sclerosis: a diagnostic overview and the importance of early identification

PubMed - autoimmune encephalitis AND misdiagnosis Published 01 Sep 2026 Relevancy: 84%

INTRODUCTION: Pediatric-onset multiple sclerosis (POMS) is uncommon but clinically relevant, as inflammatory demyelination occurs during brain maturation. Compared with adult-onset MS, POMS is characterized by higher early relapse rate and MRI inflammatory activity, better recovery from individual relapses, yet disability milestones are reached at a younger age. Early identification is essential to avoid treatment delays, while preventing misdiagnosis of mimics.

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Clinical research on ocular myasthenia gravis and related neuromuscular disorders: A systematic review and overview

PubMed - autoimmune encephalitis AND misdiagnosis Published 25 Aug 2026 Relevancy: 81%

CONCLUSION: The diagnosis of ocular myasthenia gravis remains challenging, requiring differentiation from multiple similar conditions to avoid misdiagnosis and disease progression. Additionally, individualized treatment for patients with myasthenia gravis in special populations, such as children and pregnant women, is crucial. For ocular myasthenia gravis, optimizing diagnostic criteria, achieving early differential diagnosis, and exploring safer and more effective therapeutic agents are urgent...

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Balancing Benefits and Risks: Long-term Use of Daily versus Intermittent Corticosteroids in Duchenne Muscular Dystrophy

Journal of Neurology, Neurosurgery & Psychiatry - Online First Published 24 Aug 2026 Relevancy: 24%

Background Duchenne muscular dystrophy (DMD) is treated with intermittent or daily corticosteroid (CS) regimens. Risk-benefit assessment is essential to optimise treatment choice, but long-term efficacy and side effects accumulate beyond clinical trial duration. We describe long-term effects of intermittent compared with daily regimens using real-world data. Methods We compared retrospective data from individuals with DMD treated daily with deflazacort versus intermittently (10 days on/off) with prednisone or deflazacort at three neuromuscular centres in Belgium and the Netherlands between 1995 and 2022. Outcomes included motor, pulmonary, cardiac, anthropometric and bone health domains, analysed using linear mixed effects models and beta regression. Results Data included 75 patients treated daily and 144 treated intermittently (median age start CS 5.6 years vs 5.5 years, mean follow-up 10.7 years vs 9.5 years). Daily treatment showed later loss of ambulation (15.0 years vs 11.0 years, p<0.001), slower decline of upper and lower limb motor function (p<0.001) and less spinal surgery for scoliosis (16.0% vs 27.1%, p<0.05). Individuals on intermittent treatment were taller (170.2 cm vs 140.8 cm at age 18, p<0.001), had higher bone mineral density Z-scores (p<0.001) and experienced fewer vertebral fractures (p<0.001). Body mass index across all ages, age at forced vital capacity <60% of predicted and annual decline in cardiac function were similar. Conclusion Daily CS resulted in significantly slower decline in motor function at the expense of reduced height and increased fracture risk. These findings from real-world long-term data reveal that differences between treatment regimens increase over time, highlighting the critical role of such data in guiding individualised shared decision-making.

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Long and complex shadow childhood epilepsy casts over educational achievement

Journal of Neurology, Neurosurgery & Psychiatry - Online First Published 18 Aug 2026 Relevancy: 34%

Register studies (Wimberly et al ) reveal the long-lasting educational disadvantage of childhood epilepsy but unexpected sex differences indicate that the mechanisms require cautious interpretation. Commentary The Danish national cohort study of educational achievement in childhood-onset epilepsy, published in this edition, is an impressive and important contribution to the literature. Its scale is striking: more than 1.19 million individuals were included, of whom 11 760 developed epilepsy before the age of 15 years, with follow-up extending into adulthood. The linkage of multiple registers allows the authors to describe, at the population level, a pattern that clinicians, families and teachers have long recognised: children with epilepsy are at substantially increased risk of educational disadvantage. In this study, childhood-onset epilepsy was associated with higher odds of not completing primary school, lower grades in final mathematics and language examinations and markedly reduced attainment of higher educational qualifications by the age of 35 years. Only 9.3% of individuals...

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Epilepsy and education: a nationwide cohort study

Journal of Neurology, Neurosurgery & Psychiatry - Online First Published 18 Aug 2026 Relevancy: 39%

Background Childhood-onset epilepsy has been linked to poor school performance but limited evidence exists for long-term educational achievement. We examined educational achievement from adolescence into adulthood in individuals with childhood-onset epilepsy compared with the general population. Methods In this nationwide population-based cohort study using Danish registers, we included 1 195 138 individuals born between 1987 and 2005 and followed through 2023. Epilepsy before age 15 years was identified from hospital diagnoses and antiseizure medication prescriptions (n=11 758). Individuals with epilepsy were matched on sex and age to reference individuals without epilepsy, with additional propensity score matching on perinatal and parental factors. Outcomes included completion of primary school, ninth grade mean grades and attainment of higher educational levels. Adjusted ORs (aORs), mean grade differences and adjusted incidence rate ratios were estimated using multivariable regression models. Educational trajectories were assessed from age 15 to 35 years. Results Compared with reference individuals, those with epilepsy had higher odds of not completing primary school (aOR 3.0, 95% CI 2.8 to 3.1) and lower grades in mathematics (–0.9, 95% CI –0.9 to –0.8) and language (–0.6, 95% CI –0.6 to –0.5). Educational attainment rates were reduced by 50%–56% across all higher levels, and only 9.3% of individuals with epilepsy attained the highest educational level versus 19.5% of matched reference individuals by age 35 years. Conclusions Childhood-onset epilepsy was associated with significantly lower primary school completion rates, grades and long-term educational attainment. Targeted assessment of academic capacity, interventions and support are needed to optimise outcomes for young people with epilepsy.

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