Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia

Ailton C Alves Júnior,Maurício V Daker,Alexei M C Machado, Alan S Luna, Dirceu C Valladares Neto,Eugenia R Valadares

Molecular Genetics and Metabolism Reports（2022）

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摘要

•Depression can be a non-motor symptom of autosomal dominant DYT/PARK-GCH1.•Variable expressivity and penetrance can be considered high in this syndrome.•Relatives without dystonia should also be investigated for the genetic variation.

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关键词

Dystonia, Dopa-responsive,Autosomal dominant familial dystonia,Autosomal dominant GPCH1 deficiency,Dystonic disorders,Sleep-wake disorders,Mental disorders

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