Clinical implications of gene discovery in Parkinson's disease and parkinsonism.

Détails

ID Serval
serval:BIB_AA6ECEE8210A
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Clinical implications of gene discovery in Parkinson's disease and parkinsonism.
Périodique
Movement Disorders
Auteur⸱e⸱s
Wider C., Foroud T., Wszolek Z.K.
ISSN
1531-8257[electronic], 0885-3185[linking]
Statut éditorial
Publié
Date de publication
2010
Volume
25
Numéro
Suppl. 1
Pages
S15-S20
Langue
anglais
Résumé
Over the past decade, major progress has been achieved in the identification of genes associated with Parkinson's disease (PD) and parkinsonism. Five genes have now been shown conclusively to play a role in PD susceptibility. Mutations in three of these genes, PRKN, PINK1, and DJ1, are important in early onset, recessively inherited PD, while mutations in LRRK2 and SNCA result in autosomal-dominant PD. LRRK2 has emerged as the most prevalent genetic cause of PD and has been implicated in both familial and sporadic forms of disease. In addition, autosomal-dominant dementia and Parkinsonism has been shown to be caused by mutations in the MAPT and PGRN genes. Molecular tests are now commercially available for several of these genes; however, in some of them, positive results need to be interpreted with caution until penetrance is better understood. In addition, clinical treatment of PD remains largely unaltered by the results of genetic testing.
Mots-clé
Genetic Association Studies/methods, Genetic Predisposition to Disease, Humans, Intracellular Signaling Peptides and Proteins/genetics, Mutation/genetics, Neuroprotective Agents/therapeutic use, Oncogene Proteins/genetics, Parkinson Disease/drug therapy, Parkinson Disease/etiology, Parkinsonian Disorders/genetics, Protein Kinases/genetics, Protein-Serine-Threonine Kinases/genetics, alpha-Synuclein/genetics, tau Proteins/genetics
Pubmed
Création de la notice
24/09/2010 18:55
Dernière modification de la notice
20/08/2019 16:14
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