Characterization of Recessive Parkinson Disease in a Large Multicenter Study
Suzanne Lesage, Ariane Lunati, Marion Houot, Sawssan Ben Romdhan, Fabienne Clot, Christelle Tesson, Graziella Mangone, Benjamin Le Toullec, Thomas Courtin, Kathy Larcher, Mustapha Benmahdjoub, Mohamed Arezki, Ahmed Bouhouche, Mathieu Anheim, Emmanuel Roze, François Viallet, François Tison, Emmanuel Broussolle, Murat Emre, Haşmet Hanağası, Başar Bılgıç, Mériem Tazir, Mouna Ben Djebara, Riadh Gouider, Christine Tranchant, Marie Vidailhet, E. Le Guern, Olga Corti, Chokri Mhiri, Ebba Lohmann, Andrew Singleton, Jean‐Christophe Corvol, Alexis Brice, for the French Parkinson Disease Genetics Study Group
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 of PRKN, PINK1, and DJ-1 mutations in a cohort of 1,587 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. ANN NEUROL 2020;88:843-850.