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Article

Expansion of a (CAG)n repeat region in a sporadic case of HD.

Acta neurologica Scandinavica - 1 Aug 1995

Bozza A, Malagù S, Calzolari E, Novelletto A, Pavoni M, del Senno L

Abstract excerpt

The genetic mutation underlying Huntington's disease (HD) has been identified as an expansion and instability of a specific CAG repeat sequence in a gene on chromosome 4. A simple polymerase chain reaction assay has been used for the assessment of the (CAG)n expansion in a 72-year-old woman with typical HD symptoms, but no family history of the disorder. The DNA analysis showed that the patient had an allele with...

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PMID: 7484060
DOI: 10.1111/j.1600-0404.1995.tb01026.x

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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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