ABSTRACT Distal hereditary motor neuronopathy‐7 (HMNR7) is an autosomal recessive VWA1‐related disorder characterized predominantly by distal motor involvement. A 41‐year‐old man with a history of childhood orthopedic surgery for foot deformities exhibited progressive distal weakness and muscle atrophy with lower limb predominance. Electrophysiological studies showed axonal sensorimotor involvement. Whole‐genome sequencing identified two novel VWA1 variants in compound heterozygosity: c.1244 T>C [p.(L415P)], located in the fibronectin type III (FN3) domain, and c.455delG [p.(G152Afs*54)]. This report underscores the importance of comprehensive genome analysis including VWA1 in patients with distal neuropathies, particularly when early‐onset foot deformities are present, and highlights the potential pathogenic relevance of missense variants within the second FN3 domain.
ABSTRACT Catatonia is a neuropsychiatric disorder characterized by motor, affective, and cognitive‐behavioral signs. Baclofen is a γ‐aminobutyric acid analog that produces muscle relaxation and is used for various conditions associated with spasticity. Complications associated with baclofen use include life‐threatening withdrawal and intoxication symptoms. Catatonia associated with baclofen administration has rarely been reported. Here, we report a case of catatonia associated with baclofen dose adjustment in a 54‐year‐old woman receiving intrathecal baclofen therapy for spastic paraplegia. Her symptoms responded to the diazepam challenge test and subsequently improved with lorazepam treatment. Clinicians should pay attention to the adjustment period and dose of baclofen and keep in mind the possibility of developing psychiatric symptoms, including catatonia.
ABSTRACT A 51‐year‐old woman with relapsing immune thrombocytopenia developed rapidly progressive limb weakness, sensory disturbance, and areflexia after diarrhea. Nerve conduction studies revealed demyelinating sensorimotor polyneuropathy, and Guillain‐Barré syndrome was initially diagnosed. While the symptoms resolved completely following intravenous immunoglobulin and oral prednisolone therapy, the limb weakness and sensory disturbance recurred 14 weeks after the initial neurological symptom onset. The relapsing course beyond 8 weeks, together with typical clinical features and electrodiagnostic abnormalities in two motor and two sensory nerves, supported a diagnosis of typical chronic inflammatory demyelinating polyradiculoneuropathy rather than Guillain‐Barré syndrome. Intravenous immunoglobulin, methylprednisolone pulse, plasma exchange, and subsequent oral prednisolone therapy led to improvement. Notably, the exacerbations of immune thrombocytopenia paralleled the initial neurological worsening and subsequent recurrence, with polyclonal serum IgG elevation observed before immunotherapy on both occasions. This case raises the hypothesis that shared immune activation may underlie the two disorders.
ABSTRACT Background Treatment options for amyotrophic lateral sclerosis remain limited, and the uptake of newly approved therapies in routine care is poorly characterized. Japan launched ultrahigh‐dose intramuscular methylcobalamin for amyotrophic lateral sclerosis in November 2024. Aim To describe early nationwide methylcobalamin prescription quantities and compare their scale with established amyotrophic lateral sclerosis therapies. Methods We analyzed fiscal year 2024 aggregate prescription quantities from Japan's National Database of Health Insurance Claims and Specific Health Checkups Open Data. Quantities from January through March 2025 were converted to monthly regimen equivalents based on approved dosing schedules. We compared methylcobalamin with oral edaravone and riluzole. We classified prefectures according to whether a positive prescribing quantity was directly disclosed. Results Methylcobalamin prescribing increased from 1142.4 monthly regimen equivalents in January to 1755.5 in March (+53.7%). The calendar‐day‐adjusted increase from February to March was 3.2%. In March, the standardized methylcobalamin volume was 49.5% of oral edaravone volume calculated using maintenance dosing, and at most 35.9% of the total riluzole volume. During fiscal year 2024, positive methylcobalamin quantities were directly reported in 32 of 47 prefectures. The remaining 15 could not be classified because of suppressed cells. Conclusion By March 2025, approximately 4 months after launch, ultrahigh‐dose methylcobalamin prescribing had reached nearly half the oral edaravone maintenance‐regimen‐equivalent volume. These national quantity‐based estimates provide an early benchmark for evaluating subsequent prescribing as more national claims data become available.
