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Article

Amyotrophic lateral sclerosis associated with a pathological expansion in the ATXN7 gene.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Aug 2022

Cluse Florent, Bernard Emilien, Strubi-Vuillaume Isabelle, Devos David, Mouzat Kevin, Lumbroso Serge, Froment Tilikete Caroline, Thobois StÉphane, Pegat Antoine

Abstract excerpt

Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant hereditary neurodegenerative disease caused by the expansion of a CAG-repeat in the ataxin-7 (ATXN7) gene, usually characterized by progressive cerebellar ataxia and retinal dystrophy. We report the case of a 45-year-old woman presenting with a rapid-onset amyotrophic lateral sclerosis (ALS) phenotype associated with a 39-CAG-repeat expansion in ATXN7....

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Identifiers

PMID: 34870541
DOI: 10.1080/21678421.2021.1998537

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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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