DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease


Olgiati S., Quadri M., Fang M., Rood J. P. M. A. , Saute J. A. , Chien H. F. , ...More

ANNALS OF NEUROLOGY, vol.79, no.2, pp.244-256, 2016 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 79 Issue: 2
  • Publication Date: 2016
  • Doi Number: 10.1002/ana.24553
  • Journal Name: ANNALS OF NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.244-256

Abstract

ObjectiveDNAJC6 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 approximate to 10 years from onset). Here, for the first time, we report DNAJC6 mutations in early-onset Parkinson's disease (PD).