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) identifier identifier identifier

  • 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).