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Article

Transmission distortion of the mutant alleles in spinocerebellar ataxia.

Human genetics - 1 Feb 1997

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

Abstract excerpt

Spinocerebellar ataxia type 1 and type 3 (SCA1, SCA3) are autosomal dominant neurodegenerative disorders caused by expanded CAG trinucleotide repeats in novel genes. In our collective of SCA1 and SCA3 families, we observed distortion of the Mendelian 1:1 segregation of the disease. The mutated alleles were preferentially transmitted by female carriers in SCA3, whereas a gender effect on clinical features such as...

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Identifiers

PMID: 9048937
DOI: 10.1007/s004390050355

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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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