Détail du document
Identifiant
oai:HAL:hal-02981145v1
Sujet
Parkinson’s disease PRKN PINK1 autosomal recessive inheritance genotype-phenotype correlations [SCCO.NEUR]Cognitive science/Neuro... [SDV.GEN.GH]Life Sciences [q-bio]/... [SDV.GEN.GPO]Life Sciences [q-bio]...Auteur
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, AlexisLangue
enEditeur
HAL CCSD;Wiley
Catégorie
CNRS - Centre national de la recherche scientifique
Année
2020
Date de référencement
15/12/2023
Mots clés
mutations parkinson disease prknRésumé
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
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, 2020, 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, HAL CCSD;Wiley
