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Article

Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy.

Human genetics - 1 Jan 1996

Connarty M, Dennis N R, Patch C, Macpherson J N, Harvey J F

Abstract excerpt

Dentatorubral and pallidolysian atrophy (DRPLA), a neurological disorder thought to be rare in European populations, is caused by a triplet repeat expansion in the B37 gene on chromosome 12. This disorder can phenotypically mimic Huntington's disease (HD) which is also caused by a repeat expansion. We have analysed 139 affected individuals for the HD triplet repeat expansion and found 132 patients had one normal...

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PMID: 8557266
DOI: 10.1007/BF00218837

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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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