Article
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.
Movement disorders : official journal of the Movement Disorder Society - 1 May 2020
Wirth Thomas, Mariani Louise Laure, Bergant Gaber, Baulac Michel, Habert Marie-Odile, Drouot Nathalie, Ollivier Emmanuelle, Hodžić Alenka, Rudolf Gorazd, Nitschke Patrick, Rudolf Gabrielle, Chelly Jamel, Tranchant Christine, Anheim Mathieu, Roze Emmanuel
Abstract excerpt
BACKGROUND: 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. OBJECTIVE: To report patients with early-onset dystonia parkinsonism as a result of loss-of-function mutations in nuclear receptor subfamily 4 group A member 2. METHODS: Phenotypic...
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