Characterization of Recessive Parkinson Disease in a Large Multicenter Study

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