Characterization of Recessive Parkinson Disease in a Large Multicenter Study
ANNALS OF NEUROLOGY, vol.88, no.4, pp.843-850, 2020 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 88 Issue: 4
- Publication Date: 2020
- Doi Number: 10.1002/ana.25787
- Journal Name: ANNALS OF NEUROLOGY
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, Aquatic Science & Fisheries Abstracts (ASFA), BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Psycinfo, Veterinary Science Database
- Page Numbers: pp.843-850
- Istanbul University Affiliated: Yes
Abstract
Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson disease have reached the clinical trial stage. We evaluated the frequencies ofPRKN,PINK1, andDJ-1mutations in a cohort of 1,587 cases. Mutations were found in 14.1% of patients; 27.6% were familial and 8% were isolated.PRKNwas the gene most frequently mutated in Caucasians, whereasPINK1mutations predominated in Arab-Berber individuals. Patients withPRKNmutations had an earlier age at onset, and less asymmetry, levodopa-induced motor complications, dysautonomia, and dementia than those without mutations. ANN NEUROL 2020