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Characterization of Recessive Parkinson Disease in a Large Multicenter Study
Author(s) -
Lesage Suzanne,
Lunati Ariane,
Houot Marion,
Romdhan Sawssan Ben,
Clot Fabienne,
Tesson Christelle,
Mangone Graziella,
Toullec Benjamin Le,
Courtin Thomas,
Larcher Kathy,
Benmahdjoub Mustapha,
Arezki Mohamed,
Bouhouche Ahmed,
Anheim Mathieu,
Roze Emmanuel,
Viallet François,
Tison François,
Broussolle Emmanuel,
Emre Murat,
Hanagasi Hasmet,
Bilgic Basar,
Tazir Meriem,
Djebara Mouna Ben,
Gouider Riadh,
Tranchant Christine,
Vidailhet Marie,
Le Guern Eric,
Corti Olga,
Mhiri Chokri,
Lohmann Ebba,
Singleton Andrew,
Corvol JeanChristophe,
Brice Alexis
Publication year - 2020
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.25787
Subject(s) - parkinsonism , dysautonomia , medicine , parkinson's disease , disease , dementia , phenotype , genetics , pediatrics , gene , biology
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