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Article

Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Aug 2008

Münch Christoph, Rolfs Arndt, Meyer Thomas

Abstract excerpt

The authors present a 50-year-old patient with adult-onset amyotrophic lateral sclerosis (ALS) that was rapidly progressing. Screening of the spastin gene revealed a heterozygous missense change S44L. We excluded the involvement of the ALS-linked gene for copper/zinc superoxide dismutase (SOD1). This unusual phenotype shows that allelic variants of spastin may predispose bearers to a greater spectrum of motor...

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Source

Identifiers

PMID: 18608088
DOI: 10.1080/17482960801900172

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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