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

doi:10.1007/s00415-012-6430-9

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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...

Topics

Adult
Aged
Brain
Female
Genetic Testing
Greece
Humans
Huntington Disease
Magnetic Resonance Imaging
Male
Middle Aged
Phenotype
Spinocerebellar Degenerations
Trinucleotide Repeat Expansion

Source

Open in PubMed

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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