Loss-of-function mutations in NR4A2 cause dopa-responsive dystonia Parkinsonism.
Fiche publication
Date publication
janvier 2020
Journal
Movement disorders : official journal of the Movement Disorder Society
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CHELLY Jamel
Tous les auteurs :
Wirth T, Mariani LL, Bergant G, Baulac M, Habert MO, Drouot N, Ollivier E, Hodžić A, Rudolf G, Nitschke P, Rudolf G, Chelly J, Tranchant C, Anheim M, Roze E
Lien Pubmed
Résumé
The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the cause of some dystonia parkinsonism cases remains unknown.
Mots clés
NR4A2, developmental delay, dystonia, next generation sequencing, parkinsonism
Référence
Mov. Disord.. 2020 Jan 10;: