{Reference Type}: Journal Article
{Title}: Characterization of recessive Parkinson's disease in a large multicenter study.
{Author}: Lesage S;Lunati A;Houot M;Romdhan SB;Clot F;Tesson C;Mangone G;Toullec BL;Courtin T;Larcher K;Benmahdjoub M;Arezki M;Bouhouche A;Anheim M;Roze E;Viallet F;Tison F;Broussolle E;Emre M;Hanagasi H;Bilgic B;Tazir M;Djebara MB;Gouider R;Tranchant C;Vidailhet M;Le Guern E;Corti O;Mhiri C;Lohmann E;Singleton A;Corvol JC;Brice A; ;
{Journal}: Ann Neurol
{Volume}: 0
{Issue}: 0
{Year}: May 2020 30
{Factor}: 11.274
{DOI}: 10.1002/ana.25787
{Abstract}: Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson's disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1587 cases. Mutations were found in 14.1% of patients: 27.6% were familial and 8% were isolated. PRKN was the gene most frequently mutated in Caucasians whereas PINK1 mutations predominated in Arab-Berber individuals. Patients with PRKN mutations had an earlier age at onset, and less asymmetry, levodopa-induced motor complications, dysautonomia, and dementia than those without mutations. This article is protected by copyright. All rights reserved.