Article
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Annals of neurology - 1 Oct 2020
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 Jean-Christophe, Brice Alexis
Abstract excerpt
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...
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