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Article

A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: a clinical, pathological and genetic report.

Journal of the neurological sciences - 15 Sept 2010

Yamamoto-Watanabe Yukiko, Watanabe Mitsunori, Okamoto Koichi, Fujita Yukio, Jackson Mandy, Ikeda Masaki, Nakazato Yoichi, Ikeda Yoshio, Matsubara Etsuro, Kawarabayashi Takeshi, Shoji Mikio

Abstract excerpt

Here we report a Japanese family with amyotrophic lateral sclerosis (ALS) characterized by very rapid progression, high penetrance and an autosomal dominant mode of inheritance. The phenotype includes atrophy of sternocleidomastoideus muscles, bulbar involvement, weakness of neck muscles and proximal muscle atrophy. These clinical symptoms are reminiscent of myopathy. All patients examined had similar clinical...

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Source

Identifiers

PMID: 20621307
DOI: 10.1016/j.jns.2010.06.008

Genes

FUS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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