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Article

Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease.

European neurology - 1 Jan 1996

Mandich P, Di Maria E, Bellone E, Ajmar F, Abbruzzese G

Abstract excerpt

The diagnosis of Huntington's disease (HD) may be uncertain in patients without a positive family history, particularly when atypical clinical features are present. We examined the expanded trinucleotide (CAG) repeat sequence in the IT15 gene of 27 'sporadic' cases, classified as having clinically probable or clinically doubtful HD. An abnormal number of CAG repeats (42-85) were found in 14 patients. Mutation...

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Identifiers

PMID: 8954302
DOI: 10.1159/000117292

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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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