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Article

A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Oct 2014

Mochizuki Yoko, Kawata Akihiro, Maruyama Hirofumi, Homma Taku, Watabe Kazuhiko, Kawakami Hideshi, Komori Takashi, Mizutani Toshio, Matsubara Shiro

Abstract excerpt

We describe a Japanese patient with familial amyotrophic lateral sclerosis (ALS) and a p.K510M mutation in the fused in sarcoma gene (FUS). The patient's condition was characterized clinically by an early onset and rapid progression. The patient eventually required mechanical ventilation and progressed to the totally locked-in state. Neuropathologically, multiple system degeneration with many FUS-immunoreactive...

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Identifiers

PMID: 24841222
DOI: 10.1111/neup.12130

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FUS

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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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