Characterization of Recessive Parkinson Disease in a Large Multicenter Study

Lesage S., Lunati A., Houot M., Ben Romdhan S., Clot F., Tesson C., ...Daha Fazla

ANNALS OF NEUROLOGY, cilt.88, sa.4, ss.843-850, 2020 (SCI-Expanded) identifier identifier identifier

  • 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