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Article

The rare G93D mutation causes a slowly progressing lower motor neuron disease.

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

Restagno Gabriella, Lombardo Federica, Sbaiz Luca, Mari Cristina, Gellera Cinzia, Alimonti Dario, Calvo Andrea, Tarenzi Luisella, Chiò Adriano

Abstract excerpt

We describe an ALS family with the rare SOD1 G93D mutation. Three members of the family developed ALS at an age ranging from 45 to 71 years. In all cases pyramidal signs were not evident. Two members of the family were obligate gene carriers, and died at 56 and 81years, respectively, without developing ALS signs or symptoms. The mutation was found in the DNA extracted from the hair bulbs in the two deceased...

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Identifiers

PMID: 18273717
DOI: 10.1080/17482960701788198

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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