A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
Identifieur interne : 000352 ( Main/Exploration ); précédent : 000351; suivant : 000353A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
Auteurs : Raphael Carapito [France] ; Nicodème Paul ; Meiggie Untrau ; Marion Le Gentil ; Louise Ott ; Ghada Alsaleh ; Pierre Jochem ; Mirjana Radosavljevic ; Cédric Le Caignec ; Albert David ; Philippe Damier ; Bertrand Isidor ; Seiamak BahramSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Abstract
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.
DOI: 10.1002/mds.26115
PubMed: 25545163
Affiliations:
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