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Article

Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion.

Journal of applied genetics - 1 Jan 2005

Bauer Peter O, Matoska Vaclav, Zumrova Alena, Boday Arpad, Doi Hiroshi, Marikova Tatana, Goetz Petr

Abstract excerpt

We report on a family with spinocerebellar ataxia type 1 (SCA1), in which the age at onset and the severity of the disease do not correlate with the number of CAG repeat units. Although a marked anticipation was observed in the proband, it was not a consequence of an expansion of the CAG tract. None of the expanded alleles contained CAT interruptions. The pathologic expansion in this family was stable during the...

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Source

Identifiers

PMID: 16110192

Genes

CAT

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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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