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Article

SCA8 in the Spanish population including one homozygous patient.

Clinical genetics - 1 Nov 2002

Tazón B, Badenas C, Jiménez L, Muñoz E, Milà M

Abstract excerpt

Controversial data have been reported about SCA8 since its description in 1999. The most accepted hypothesis is that CTG expansions within the CTA/CTG combined repeat expansion in the SCA8 locus causes SCA8. It is inherited as a dominant trait with reduced penetrance. The present study, reports the first data regarding SCA8 in the Spanish population and the clinical findings in patients carrying expanded alleles,...

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Identifiers

PMID: 12431257
DOI: 10.1034/j.1399-0004.2002.620509.x

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

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