Characterization of Recessive Parkinson Disease in a Large Multicenter Study
ANNALS OF NEUROLOGY, cilt.88, sa.4, ss.843-850, 2020 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 88 Sayı: 4
- Basım Tarihi: 2020
- Doi Numarası: 10.1002/ana.25787
- Dergi Adı: ANNALS OF NEUROLOGY
- Derginin Tarandığı İndeksler: 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
- Sayfa Sayıları: ss.843-850
- İstanbul Üniversitesi Adresli: Evet
Özet
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