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Article

Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion.

Journal of neurology - 1 Sept 2012

Koutsis G, Karadima G, Pandraud A, Sweeney M G, Paudel R, Houlden H, Wood N W, Panas M

Abstract excerpt

Huntington’s disease (HD) is an autosomal dominant disorder characterized by a triad of chorea, psychiatric disturbance and cognitive decline. Around 1% of patients with HD-like symptoms lack the causative HD expansion and are considered HD phenocopies. Genetic diseases that can present as HD phenocopies include HD-like syndromes such as HDL1, HDL2 and HDL4 (SCA17), some spinocerebellar ataxias (SCAs) and...

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Identifiers

PMID: 22297462
DOI: 10.1007/s00415-012-6430-9

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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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