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Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Aug 2022

Bernard Emilien, Pegat Antoine, Vallet Anne-Evelyne, Leblanc Pascal, Lumbroso Serge, Mouzat Kevin, Latour Philippe

Abstract excerpt

Mutation in the sorbitol dehydrogenase gene (SORD) has been recently described to cause axonal Charcot-Marie-Tooth disease (CMT), intermediate CMT, and distal hereditary motor neuropathy (dHMN). We herein report the case of a 24-year-old patient diagnosed with juvenile amyotrophic lateral sclerosis (JALS) who carried the homozygous c.757delG mutation in SORD. No other pathogenic variant in frequent JALS-causative...

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Identifiers

PMID: 34751056
DOI: 10.1080/21678421.2021.1998538

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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