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Article

ADCY5 mutations are another cause of benign hereditary chorea.

Neurology - 7 Jul 2015

Mencacci Niccolo E, Erro Roberto, Wiethoff Sarah, Hersheson Joshua, Ryten Mina, Balint Bettina, Ganos Christos, Stamelou Maria, Quinn Niall, Houlden Henry, Wood Nicholas W, Bhatia Kailash P

Abstract excerpt

OBJECTIVE: To determine the contribution of ADCY5 mutations in cases with genetically undefined benign hereditary chorea (BHC). METHODS: We studied 18 unrelated cases with BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations. The diagnosis of BHC was based on the presence of a childhood-onset movement disorder, predominantly characterized by chorea and no other major neurologic features. ADCY5...

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Identifiers

PMID: 26085604
DOI: 10.1212/WNL.0000000000001720
PMCID: PMC4501937

Genes

ADCY5

Variants

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