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Article

C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome.

Journal of neurology - 1 Oct 2014

Kostić Vladimir S, Dobričić Valerija, Stanković Iva, Ralić Vesna, Stefanova Elka

Abstract excerpt

Huntington disease (HD), the most common inherited cause of chorea, is an autosomal dominant disorder, caused by an expanded trinucleotide CAG repeat (>39) in the HTT gene on chromosome 4p16.3. Among patients diagnosed as HD solely on clinical grounds, a certain number was negative on genetic testing for HD. Therefore, HD-like disorders comprised a number of genetic causes of chorea, that may be indistinguishable...

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Source

Identifiers

PMID: 25034271
DOI: 10.1007/s00415-014-7430-8

Genes

HTT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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