Characterization of Recessive Parkinson Disease in a Large Multicenter Study

Date
2020
Author
Houot, Marion
Tazir, Meriem
Ben Djebara, Mouna
Gouider, Riadh
Tranchant, Christine
Vidailhet, Marie
Le Guern, Eric
Corti, Olga
Mhiri, Chokri
Lohmann, Ebba
Lesage, Suzanne
Lunati, Ariane
Ben Romdhan, Sawssan
Clot, Fabienne
Tesson, Christelle
Mangone, Graziella
Le Toullec, Benjamin
Courtin, Thomas
Larcher, Kathy
Benmahdjoub, Mustapha
Arezki, Mohamed
Bouhouche, Ahmed
Anheim, Mathieu
Roze, Emmanuel
Viallet, Francois
Tison, Francois
Broussolle, Emmanuel
Emre, Murat
Hanagasi, Hasmet
Singleton, Andrew
Corvol, Jean-Christophe
Brice, Alexis
Bilgic, Basar
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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
URI
http://hdl.handle.net/20.500.12627/47455
https://doi.org/10.1002/ana.25787
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