Afficher la couverture 'Characterization of recessive Parkinson's disease in a large multicenter study. Caractérisation des formes autosomiques récessives de la maladie de Parkinson dans une large cohorte multi-centrique | Lesage, Suzanne' en grand format
/5

0 avis

Characterization of recessive Parkinson's disease in a large multicenter study. Caractérisation des formes autosomiques récessives de la maladie de Parkinson dans une large cohorte multi-centrique

Archive ouverte

Lesage, Suzanne | Lunati, Ariane | Houot, Marion | Romdhan, Sawssan, Ben | Clot, Fabienne | Tesson, Christelle | Mangone, Graziella | Le Toullec, Benjamin | Courtin, Thomas | Larcher, Kathy | Benmahdjoub, Mustapha | Arezki, Mohammed | 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

Edité par CCSD ; Wiley -

International audience. 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

Suggestions

Du même auteur

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Archive ouverte | Lesage, Suzanne | CCSD

International audience. Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease...

Early cognitive decline after bilateral subthalamic deep brain stimulation in Parkinson's disease patients with GBA mutations

Archive ouverte | Mangone, Graziella | CCSD

International audience. Mutations in the Parkinson’s disease (PD) protein Leucine Rich Repeat Kinase 2 (LRRK2) have been under study for more than 15 years and our understanding of the cellular phenotypes for the pa...

Suggestive association between OPRM1 and impulse control disorders in Parkinson's disease

Archive ouverte | Cormier-Dequaire, Florence | CCSD

International audience

Chargement des enrichissements...