Author

Shoji Tsuji

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Open access Jul 2026

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

The importance of comprehensive genome analysis including VWA1 in patients with distal neuropathies, particularly when early‐onset foot deformities are present, is highlighted, and the potential pathogenic relevance of missense variants within the second FN3 domain is highlighted.

Toshiyuki Kakumoto, Kenta Orimo, T. Matsukawa et al. · Neurology and Clinical Neuro... · 0 citations

Review Open access Aug 2026

Biallelic SIGMAR1 variants in early-onset distal hereditary motor neuropathy: A Japanese case series

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