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Jun Mitsui

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Open access Aug 2026

Clinical heterogeneity of dysphagia in spinocerebellar ataxia type 6 and its relationship with CAG repeat length

Spinocerebellar ataxia type 6 (SCA6) is classically regarded as a relatively pure cerebellar ataxia, and dysphagia has therefore been considered uncommon. Consequently, the clinical characteristics of dysphagia in SCA6 remain poorly understood. We retrospectively analyzed 70 patients with genetically confirmed SCA6...

Yumiko Nakamura, T. Matsukawa, A. Kaneoka et al. · 0 citations
Aug 2026

Subthreshold early white-matter hyperintensity increase predicts accelerated hippocampal and whole-brain atrophy in anti-amyloid-β immunotherapy

A transient WMH surge within the first 60 days of therapy mirrors the known time course of amyloid-related imaging abnormalities and independently predicts accelerated long-term hippocampal and whole-brain atrophy, highlighting its potential as an early prognostic imaging marker.

Shiori Amemiya, Hidemasa Takao, Shoya Matsumoto et al. · 0 citations
Review Open access Aug 2026

Delayed appearance of bilateral cerebral peduncle lesions in autoimmune glial fibrillary acidic protein astrocytopathy: A serial MRI case series.

Bilateral cerebral peduncle lesions may represent a delayed non-enhancing MRI manifestation of GFAP-A, and careful assessment of the cerebral peduncles on follow-up MRI may help characterize the evolving lesion distribution.

Yusuke Akitomi, Kensuke Takahashi, Yuta Komori et al. · 0 citations
Open access Jul 2026

A Case of Distal Hereditary Motor Neuronopathy‐7 With Two Novel VWA1 Variants in Compound Heterozygosity

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 predo...

Toshiyuki Kakumoto, Kenta Orimo, T. Matsukawa et al. · 0 citations
Open access Jul 2026

Comprehensive genomic analysis of five kindreds with multiple childhood leukemias: importance of individual functional analysis for rare ETV6 germline variants

Findings indicate that p.Arg202Gly behaves as WT-like in the assays performed and do not support a loss-of-function effect, emphasizing the importance of variant-level functional assessment for rare ETV6 variants to inform clinical interpretation and avoid overestimation of pathogenicity.

Ai Yamada, Shun Nagasawa, Midori Nakagawa et al. · 0 citations

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