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Article

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.

Neurology - 28 Jan 2014

Hensman Moss Davina J, Poulter Mark, Beck Jon, Hehir Jason, Polke James M, Campbell Tracy, Adamson Garry, Mudanohwo Ese, McColgan Peter, Haworth Andrea, Wild Edward J, Sweeney Mary G, Houlden Henry, Mead Simon, Tabrizi Sarah J

Abstract excerpt

OBJECTIVE: In many cases where Huntington disease (HD) is suspected, the genetic test for HD is negative: these are known as HD phenocopies. A repeat expansion in the C9orf72 gene has recently been identified as a major cause of familial and sporadic frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Our objective was to determine whether this mutation causes HD phenocopies. METHODS: A cohort of...

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Identifiers

PMID: 24363131
DOI: 10.1212/WNL.0000000000000061
PMCID: PMC3929197

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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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