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Article

A Japanese familial ALS patient with autonomic failure and a p.Cys146Arg mutation in the gene for SOD1 (SOD1).

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Dec 2016

Hayashi Kentaro, Mochizuki Yoko, Koide Reiji, Kawata Akihiro, Homma Taku, Shimizu Toshio, Komori Takashi, Isozaki Eiji

Abstract excerpt

We describe a Japanese man with familial amyotrophic lateral sclerosis (ALS) associated with a p.Cys146Arg mutation in the copper/zinc superoxide dismutase gene (SOD1). The patient developed bulbar signs followed by rapidly progressive limb muscle weakness. The prominent clinical feature was orthostatic hypotension due to autonomic failure, which occurred after he underwent tracheostomy 1 year and 3 months after...

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PMID: 27090969
DOI: 10.1111/neup.12303

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SOD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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