A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia.

Amjad KhanAnne MolitorSylvain MayeurGaoqun ZhangBruno RinaldiBéatrice LannesBenoît LhermitteMuhammad UmairStefan T AroldSylvie FriantSepand RastegarMathieu AnheimSeiamak BahramRaphaël Carapito

Published in: Movement disorders : official journal of the Movement Disorder Society (2021)

We report the association of a PPP1R1B/DARPP-32 variant with generalized dystonia in man. It might be relevant to include the sequencing of this new gene in the diagnosis of patients with otherwise unexplained movement disorders. © 2021 International Parkinson and Movement Disorder Society.

Keyphrases

deep brain stimulation
early onset
single cell
intellectual disability
genome wide
copy number
genome wide identification
gene expression
dna methylation
autism spectrum disorder
transcription factor