ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

doi:10.1212/WNL.0000000000002058

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Article

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Neurology - 8 Dec 2015

Chen Dong-Hui, Méneret Aurélie, Friedman Jennifer R, Korvatska Olena, Gad Alona, Bonkowski Emily S, Stessman Holly A, Doummar Diane, Mignot Cyril, Anheim Mathieu, Bernes Saunder, Davis Marie Y, Damon-Perrière Nathalie, Degos Bertrand, Grabli David, Gras Domitille, Hisama Fuki M, Mackenzie Katherine M, Swanson Phillip D, Tranchant Christine, Vidailhet Marie, Winesett Steven, Trouillard Oriane, Amendola Laura M, Dorschner Michael O, Weiss Michael, Eichler Evan E, Torkamani Ali, Roze Emmanuel, Bird Thomas D, Raskind Wendy H

Abstract excerpt

OBJECTIVE: To investigate the clinical spectrum and distinguishing features of adenylate cyclase 5 (ADCY5)-related dyskinesia and genotype-phenotype relationship. METHODS: We analyzed ADCY5 in patients with choreiform or dystonic movements by exome or targeted sequencing. Suspected mosaicism was confirmed by allele-specific amplification. We evaluated clinical features in our 50 new and previously reported cases....

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Identifiers

PMID: 26537056
DOI: 10.1212/WNL.0000000000002058
PMCID: PMC4676753

Genes

ADCY5

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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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