The prevalence of PRKRA mutations in idiopathic dystonia

Camila Oliveira dos Santos,Francisco Pereira da Silva-Júnior, Renato David Puga,Egberto Reis Barbosa,Sonia Maria Cesar Azevedo Silva,Vanderci Borges,João Carlos Papaterra Limongi,Maria Sheila Guimarães Rocha,Henrique Ballalai Ferraz,Patricia de Carvalho Aguiar

Parkinsonism & Related Disorders（2018）

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摘要

•PRKRA is not an unusual cause of isolated dystonia.•Parkinsonism was not present in affected mutation carriers.•This is the first report of PRKRA mutations causing adulthood-onset dystonia.•PRKRA has a mutation hotspot.

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关键词

Dystonia,Genetics,DYT16,Dystonia-parkinsonism,PRKRA

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