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.· Scientific Reports· 0 citations
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.· Journal of Alzheimer's Disea...· 0 citations
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.· Journal of Neurological Scie...· 0 citations
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.· Neurology and Clinical Neuro...· 0 citations
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.· Human Cell· 0 citations
The findings expand the clinical and genetic spectrum of SIGMAR1-associated disease and support its classification as dHMN rather than ALS, particularly in patients with dHMN accompanied by pyramidal features.
Kento Kodama, M. Ando, Y. Higuchi et al.· Journal of Neuromuscular Dis...· 0 citations
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