Article
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Annals of neurology - 1 Feb 2016
Olgiati Simone, Quadri Marialuisa, Fang Mingyan, Rood Janneke P M A, Saute Jonas A, Chien Hsin Fen, Bouwkamp Christian G, Graafland Josja, Minneboo Michelle, Breedveld Guido J, Zhang Jianguo, Verheijen Frans W, Boon Agnita J W, Kievit Anneke J A, Jardim Laura Bannach, Mandemakers Wim, Barbosa Egberto Reis, Rieder Carlos R M, Leenders Klaus L, Wang Jun, Bonifati Vincenzo
Abstract excerpt
OBJECTIVE: DNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age < 11), prominent atypical signs, poor or absent response to levodopa, and rapid progression (wheelchair-bound within ∼10 years from onset). Here, for the first time, we report DNAJC6 mutations in early-onset Parkinson's disease (PD). METHODS: The DNAJC6 open reading frame was analyzed in...
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