A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family

Hanagasi, HAŞMET; Giri, Anamika; Kartal, Ece; Guven, ZEYNEP; Bilgic, BAŞAR; Hauser, Ann-Kathrin; Emre, Murat; Heutink, Peter; Basak, Nazh; Gasser, Thomas; Simon-Sanchez, Javier; Lohmann, Ebba

doi:10.1016/j.parkreldis.2016.03.001

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family

Hanagasi H. A., Giri A., Kartal E., Guven G., Bilgic B., Hauser A., ...Daha Fazla

PARKINSONISM & RELATED DISORDERS, cilt.29, ss.117-120, 2016 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 29
Basım Tarihi: 2016
Doi Numarası: 10.1016/j.parkreldis.2016.03.001
Dergi Adı: PARKINSONISM & RELATED DISORDERS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.117-120
Anahtar Kelimeler: DJ1, PARK7, Parkinson's disease, Amyotrophic lateral sclerosis, DJ-1, DISEASE, DEMENTIA
İstanbul Üniversitesi Adresli: Evet

Özet

Objective: DJ1 mutations (PARK7) are among the monogenic causes of early-onset autosomal recessive parkinsonism. Here, we report clinical and genetic findings in a family with Turkish origin carrying a new DJ1 mutation and presenting with early-onset levodopa responsive parkinsonism and signs of amyotrophic lateral sclerosis (ALS).