Clinical genetics of Parkinson's disease and related disorders.

Détails

ID Serval
serval:BIB_160BBBC64FB3
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Clinical genetics of Parkinson's disease and related disorders.
Périodique
Parkinsonism and Related Disorders
Auteur(s)
Wider C., Wszolek Z.K.
ISSN
1353-8020[print], 1353-8020[linking]
Statut éditorial
Publié
Date de publication
2007
Volume
13 Suppl 3
Pages
S229-S232
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
Résumé
Our knowledge regarding the genetics of Parkinson's disease (PD) and parkinsonism has evolved dramatically during the past decade, with the discovery of numerous loci and genes. The LRRK2 gene has emerged as the most commonly involved in both familial and sporadic PD. Several variants in LRRK2 and SNCA have been associated with an increased risk of sporadic PD. PRKN, PINK1 and DJ1 mutations cause early-onset recessively inherited PD. Autosomal dominant dementia and parkinsonism is caused by mutations in the MAPT gene, and in the most recently discovered PGRN gene.
Mots-clé
Genetic Predisposition to Disease/genetics, Humans, Intercellular Signaling Peptides and Proteins/genetics, Intracellular Signaling Peptides and Proteins/genetics, Mutation, Oncogene Proteins/genetics, Parkinson Disease/genetics, Parkinson Disease/pathology, Parkinsonian Disorders/genetics, Parkinsonian Disorders/pathology, Protein-Serine-Threonine Kinases/genetics, Ubiquitin-Protein Ligases/genetics, alpha-Synuclein/genetics, tau Proteins/genetics
Pubmed
Création de la notice
24/09/2010 19:08
Dernière modification de la notice
20/08/2019 13:45
Données d'usage