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Article

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

Annals of neurology - 1 Dec 1997

Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen J T, Riess O

Abstract excerpt

Seventy-seven families with autosomal dominant cerebellar ataxia were analyzed for the CAG repeat expansions causing spinocerebellar ataxia (SCA) types 1, 2, 3, and 6. The SCA1 mutation accounted for 9%, SCA2 for 10%, SCA3 for 42%, and SCA6 for 22% of German ataxia families. Seven of 27 SCA6 patients had no family history of ataxia. Age at onset correlated inversely with repeat length in all subtypes. Yet the...

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Identifiers

PMID: 9403486
DOI: 10.1002/ana.410420615

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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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