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Article

A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.

Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2015

Carapito Raphael, Paul Nicodème, Untrau Meiggie, Le Gentil Marion, Ott Louise, Alsaleh Ghada, Jochem Pierre, Radosavljevic Mirjana, Le Caignec Cédric, David Albert, Damier Philippe, Isidor Bertrand, Bahram Seiamak

Abstract excerpt

IMPORTANCE: Apart from Huntington's disease, little is known of the genetics of autosomal dominant chorea associated with dystonia. Here we identify adenylate cyclase 5 (ADCY5) as a likely new causal gene for early-onset chorea and dystonia. OBSERVATIONS: Whole exome sequencing in a three-generat...

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Source

Identifiers

PMID: 25545163
DOI: 10.1002/mds.26115

Genes

ADCY5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25545163-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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