DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease

Olgiati, Simone; Quadri, Marialuisa; Fang, Mingyan; Rood, Janneke; Saute, Jonas; Chien, Hsin; Bouwkamp, Christian; Graafland, Josja; Minneboo, Michelle; Breedveld, Guido; Zhang, Jianguo; Verheijen, Frans; Boon, Agnita; Kievit, Anneke; Jardim, Laura; Mandemakers, Wim; Barbosa, Egberto; Rieder, Carlos; Leenders, Klaus; Wang, Jun; Bonifati, Vincenzo; van de Warrenburg, B.; Delnooz, C.; Rietveld, A.; Bloem, B.; Ferreira, J.; Correia Guedes, L.; Tolosa, E.; Kurtiz, M.; Obeso, J.; Emre, M.; Hanagasi, HAŞMET; Bilgic, MEBRURE; Tufekcioglu, Z.; Elibol, B.; Lu, Chin-Song; Wu-Chou, Yah-Huei; Yeh, Tu-Hsueh; Atadzhanov, M.; Kelly, P.; Lopiano, L.; Tassorelli, C.; Pacchetti, C.; Nappi, G.; Riboldazzi, G.; Bono, G.; Comi, C.; Padovani, A.; Borroni, B.; Raudino, F.; Fincati, E.; Bertolasi, L.; Tinazzi, M.; Bonizzato, A.; Ferracci, C.; Libera, A.; Marini, P.; Massaro, F.; Federico, A.; Taglia, I.; Battisti, C.; Marconi, R.; Onofrj, M.; Thomas, A.; Vanacore, N.; Meco, G.; Fabbrini, G.; Fabrizio, E.; Berardelli, A.; Stocchi, F.; Vacca, L.; Picillo, M.; De Rosa, A.; Criscuolo, C.; De Michele, G.; Filla, A.; Barone, P.; De Mari, M.; Dell'Aquila, C.; Iliceto, G.; Lamberti, P.; Toni, V.; Trianni, G.; Gagliardi, M.; Annesi, G.; Quattrone, A.; Saddi, V.; Cossu, G.; Melis, M.

doi:10.1002/ana.24553

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, Scopus)

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).