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., ...Daha Fazla

ANNALS OF NEUROLOGY, cilt.79, sa.2, ss.244-256, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 79 Sayı: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1002/ana.24553
  • Dergi Adı: ANNALS OF NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.244-256
  • İstanbul Üniversitesi Adresli: Evet

Özet

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).