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Article

Huntington's disease phenocopies are clinically and genetically heterogeneous.

Movement disorders : official journal of the Movement Disorder Society - 15 Apr 2008

Wild Edward J, Mudanohwo Ese E, Sweeney Mary G, Schneider Susanne A, Beck Jon, Bhatia Kailash P, Rossor Martin N, Davis Mary B, Tabrizi Sarah J

Abstract excerpt

Huntington's disease (HD) classically presents with movement disorder, cognitive dysfunction and behavioral problems but is phenotypically variable. One percent of patients with HD-like symptoms lack the causative mutation and are considered HD phenocopies. Genetic diseases known to cause HD phenocopies include HD-like syndromes HDL1, HDL2, and HDL4 (SCA17). HD has phenotypic overlap with...

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Source

Identifiers

PMID: 18181206
DOI: 10.1002/mds.21915

Genes

FTL
JPH3
PRNP
TBP

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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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