Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation
Identifieur interne : 000463 ( Pmc/Corpus ); précédent : 000462; suivant : 000464Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation
Auteurs : Aikaterina Angeli ; Niccolo E. Mencacci ; Raquel Duran ; Iciar Aviles-Olmos ; Zinovia Kefalopoulou ; Joseph Candelario ; Sarah Rusbridge ; Jennifer Foley ; Priyanka Pradhan ; Marjan Jahanshahi ; Ludvic Zrinzo ; Marwan Hariz ; Nicholas W. Wood ; John Hardy ; Patricia Limousin ; Tom FoltynieSource :
- Movement Disorders [ 0885-3185 ] ; 2013.
Abstract
Variation in the genetic risk(s) of developing Parkinson's disease (PD) undoubtedly contributes to the subsequent phenotypic heterogeneity. Although patients with PD who undergo deep brain stimulation (DBS) are a skewed population, they represent a valuable resource for exploring the relationships between heterogeneous phenotypes and PD genetics. In this series, 94 patients who underwent DBS were screened for mutations in the most common genes associated with PD. The consequent genetic subgroups of patients were compared with respect to phenotype, levodopa (
Url:
DOI: 10.1002/mds.25535
PubMed: 23818421
PubMed Central: 3886301
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