PARKINSONISM & RELATED DISORDERS, vol.29, pp.117-120, 2016 (SCI-Expanded)
Article / Article
PARKINSONISM & RELATED DISORDERS
Science Citation Index Expanded (SCI-EXPANDED), Scopus
DJ1, PARK7, Parkinson's disease, Amyotrophic lateral sclerosis, DJ-1, DISEASE, DEMENTIA
Istanbul University Affiliated:
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).