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., ...More

PARKINSONISM & RELATED DISORDERS, vol.29, pp.117-120, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29
  • Publication Date: 2016
  • Doi Number: 10.1016/j.parkreldis.2016.03.001
  • Journal Name: PARKINSONISM & RELATED DISORDERS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.117-120
  • Keywords: DJ1, PARK7, Parkinson's disease, Amyotrophic lateral sclerosis, DJ-1, DISEASE, DEMENTIA
  • Istanbul University Affiliated: Yes

Abstract

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).