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Article

Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation.

Acta neuropathologica - 1 Oct 2004

Tan Chun-Feng, Piao Yue-Shan, Hayashi Shintaro, Obata Hiroaki, Umeda Yoshitaka, Sato Masahisa, Fukushima Takao, Nakano Ryoichi, Tsuji Shoji, Takahashi Hitoshi

Abstract excerpt

We describe a patient with familial amyotrophic lateral sclerosis (FALS) in whom we identified a novel missense mutation in exon 4 (Asp101Tyr) of the Cu/Zn superoxide dismutase (SOD1) gene. The disease started with a bulbar symptom (rapidly progressive hoarseness) and at autopsy showed degenerative changes restricted to the upper and lower motor neuron systems (more strictly, with lower motor predominance,...

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Source

Identifiers

PMID: 15235802
DOI: 10.1007/s00401-004-0893-4

Genes

SOD1

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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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