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Article

Absence of unidentified CAG repeat expansion in patients with Huntington's disease-like phenotype.

Journal of neurology, neurosurgery, and psychiatry - 1 May 2000

Vuillaume I, Meynieu P, Schraen-Maschke S, Destée A, Sablonnière B

Abstract excerpt

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by an expanded (CAG)n repeat on the huntingtin gene. It is characterised by motor, psychiatric and cognitive disturbances. Diagnosis can be confirmed by direct genetic testing, which is highly sensitive and specific and is now considered definitive. This study focused on 21 patients presenting with a clinical phenotype showing...

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Identifiers

PMID: 10766906
DOI: 10.1136/jnnp.68.5.672
PMCID: PMC1736926

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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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