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Article

A novel P66S mutation in exon 3 of the SOD1 gene with early onset and rapid progression.

Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Feb 2012

Keckarević Dušan, Stević Zorica, Keckarević-Marković Milica, Kecmanović Miljana, Romac Stanka

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease in adults of unknown origin in most cases. Here we report a novel P66S mutation in exon 3 of the SOD1 gene in an apparently sporadic ALS patient with unusual early onset and rapid disease progression. Our data widen the spectrum of SOD1 mutations and clinical presentations of ALS.

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Source

Identifiers

PMID: 22214314
DOI: 10.3109/17482968.2011.627588

Genes

SOD1

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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