| Literature DB >> 32472966 |
Suzanne Lesage1,2,3,4, Ariane Lunati1,2,3,4, Marion Houot5,6, Sawssan Ben Romdhan1,2,3,4,7, Fabienne Clot8, Christelle Tesson1,2,3,4, Graziella Mangone6, Benjamin Le Toullec6, Thomas Courtin1,2,3,4, Kathy Larcher8, Mustapha Benmahdjoub9, Mohammed Arezki9, Ahmed Bouhouche10, Mathieu Anheim11,12,13, Emmanuel Roze1,2,3,4,14, François Viallet15,16, François Tison17,18,19, Emmanuel Broussolle20,21,22, Murat Emre23, Hasmet Hanagasi23, Basar Bilgic23, Meriem Tazir24, Mouna Ben Djebara25, Riadh Gouider25, Christine Tranchant11,12,13, Marie Vidailhet1,2,3,4,14, Eric Le Guern1,2,3,4,8, Olga Corti1,2,3,4, Chokri Mhiri7, Ebba Lohmann23,26, Andrew Singleton27, Jean-Christophe Corvol1,2,3,4,6, Alexis Brice1,2,3,4.
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. This article is protected by copyright. All rights reserved.Entities:
Keywords: PINK1; PRKN; Parkinson's disease; autosomal recessive inheritance; genotype-phenotype correlations
Year: 2020 PMID： 32472966 PMCID： PMC8944279 DOI： 10.1002/ana.25787
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422