Genetics of Parkinson disease and essential tremor.

Détails

Ressource 1Télécharger: BIB_0AB79684B8E3.P001.pdf (428.73 [Ko])
Etat: Serval
Version: de l'auteur
ID Serval
serval:BIB_0AB79684B8E3
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
Genetics of Parkinson disease and essential tremor.
Périodique
Current Opinion in Neurology
Auteur(s)
Wider Christian, Ross Owen A., Wszolek Zbigniew K.
ISSN
1473-6551[electronic], 1080-8248[linking]
Statut éditorial
Publié
Date de publication
2010
Peer-reviewed
Oui
Volume
23
Numéro
4
Pages
388-393
Langue
anglais
Résumé
Purpose of review: Elucidating the genetic background of Parkinson disease and essential tremor is crucial to understand the pathogenesis and improve diagnostic and therapeutic strategies.
Recent findings: A number of approaches have been applied including familial and association studies, and studies of gene expression profiles to identify genes involved in susceptibility to Parkinson disease. These studies have nominated a number of candidate Parkinson disease genes and novel loci including Omi/HtrA2, GIGYF2, FGF20, PDXK, EIF4G1 and PARK16. A recent notable finding has been the confirmation for the role of heterozygous mutations in glucocerebrosidase (GBA) as risk factors for Parkinson disease. Finally, association studies have nominated genetic variation in the leucine-rich repeat and Ig containing 1 gene (LINGO1) as a risk for both Parkinson disease and essential tremor, providing the first genetic evidence of a link between the two conditions.
Summary: Although undoubtedly genes remain to be identified, considerable progress has been achieved in the understanding of the genetic basis of Parkinson disease. This same effort is now required for essential tremor. The use of next-generation high-throughput sequencing and genotyping technologies will help pave the way for future insight leading to advances in diagnosis, prevention and cure.
Mots-clé
Essential Tremor, Genetics, Lingo1, Park16, Parkinson Disease, Risk-Factor, Alpha-Synuclein, Chinese Population, Lingo1 RS9652490, Pyridoxal Kinase, LRRK2 R1628P, Confers Risk, Association, Mutations, Variant
Pubmed
Web of science
Open Access
Oui
Création de la notice
26/07/2010 11:13
Dernière modification de la notice
08/05/2019 14:13
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