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Article

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity.

Brain : a journal of neurology - 1 Dec 1993

Dürr A, Chneiweiss H, Khati C, Stevanin G, Cancel G, Feingold J, Agid Y, Brice A

Abstract excerpt

Families with autosomal dominant cerebellar ataxia (ADCA), a heterogeneous group of diseases, were investigated prior to and during genetic linkage analysis. We report here on the clinical features of 122 affected individuals from 36 unrelated families with ADCA type I, the most common type. Our results indicate an anticipation expressed in a mean 9.4 year earlier age at onset and more rapid clinical progression...

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Identifiers

PMID: 8293283
DOI: 10.1093/brain/116.6.1497

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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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