Characterization of Recessive Parkinson Disease in a Large Multicenter Study. Issue 4 (28th July 2020)

• Record Type: Journal Article
• Authors: 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;
• Other Names: Lesage Suzanne investigator.; Lunati Ariane investigator.; Houot Marion investigator.; Ben Romdhan Sawssan investigator.; Clot Fabienne investigator.; Tesson Christelle investigator.; Mangone Graziella investigator.; Le Toullec Benjamin investigator.; Courtin Thomas investigator.; Larcher Kathy investigator.; Benmahdjoub Mustapha investigator.; Arezki Mohammed investigator.; Bouhouche Ahmed investigator.; Anheim Mathieu investigator.; Roze Emmanuel investigator.; Viallet François investigator.; Tison François investigator.; Broussolle Emmanuel investigator.; Emre Murat investigator.; Hanagasi Hasmet investigator.; Bilgic Basar investigator.; Ben Djebara Mouna investigator.; Gouider Riadh investigator.; Tazir Meriem investigator.; Tranchant Christine investigator.; Vidailhet Marie investigator.; Le Guern Eric investigator.; Corti Olga investigator.; Mhiri Chokri investigator.; Lohmann Ebba investigator.; Singleton Andy investigator.; Corvol Jean‐Christophe investigator.; Brice Alexis investigator.;
• Is Part Of: Annals of neurology. Volume 88:Issue 4(2020)
• Page Start: 843
• Page End: 850
• Publication Date: 2020-07-28
• Subjects: Neurology -- Periodicals; Pediatric neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; 616.8
• DOI: 10.1002/ana.25787
• Languages: English
• ISSNs: 0364-5134

Abstract

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