Genetics of Parkinson's disease: the yield.

Détails

ID Serval
serval:BIB_83014F6037B0
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
Institution
Titre
Genetics of Parkinson's disease: the yield.
Périodique
Parkinsonism and Related Disorders
Auteur(s)
Spatola M., Wider C.
ISSN
1873-5126 (Electronic)
ISSN-L
1353-8020
Statut éditorial
Publié
Date de publication
2014
Peer-reviewed
Oui
Volume
20
Numéro
Suppl 1
Pages
S35-S38
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review Publication Status: ppublish
Résumé
The discovery of genes implicated in familial forms of Parkinson's disease (PD) has provided new insights into the molecular events leading to neurodegeneration. Clinically, patients with genetically determined PD can be difficult to distinguish from those with sporadic PD. Monogenic causes include autosomal dominantly (SNCA, LRRK2, VPS35, EIF4G1) as well as recessively (PARK2, PINK1, DJ-1) inherited mutations. Additional recessive forms of parkinsonism present with atypical signs, including very early disease onset, dystonia, dementia and pyramidal signs. New techniques in the search for phenotype-associated genes (next-generation sequencing, genome-wide association studies) have expanded the spectrum of both monogenic PD and variants that alter risk to develop PD. Examples of risk genes include the two lysosomal enzyme coding genes GBA and SMPD1, which are associated with a 5-fold and 9-fold increased risk of PD, respectively. It is hoped that further knowledge of the genetic makeup of PD will allow designing treatments that alter the course of the disease.
Mots-clé
Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Parkinson Disease/genetics, Risk Factors
Pubmed
Création de la notice
06/08/2014 19:52
Dernière modification de la notice
20/08/2019 15:42
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