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Article

Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family.

Acta neurologica Scandinavica - 1 Nov 2017

Cintra V P, Lourenço C M, Rocha M M V, Tomaselli P J, Marques W

Abstract excerpt

Spinocerebellar ataxia type 8 (SCA8) is a progressive neurological disorder caused by the expanded repeat CTA/CTG of two overlapping genes, ATXN8OS and ATXN8, expressed bidirectionally. Normal alleles have 15-50 repeats, and pathogenic alleles range from 71 to 1300 repeats. The disorder is relatively rare, accounting for about 2%-5% of the autosomal dominant forms of hereditary ataxia worldwide. However, the...

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Source

Identifiers

PMID: 28229454
DOI: 10.1111/ane.12744

Genes

ATXN8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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