Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.
Identifieur interne : 000856 ( PubMed/Corpus ); précédent : 000855; suivant : 000857Genotype 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 : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Adult, Age of Onset, Antiparkinson Agents (therapeutic use), Child, Deep Brain Stimulation, Dopamine Agents (therapeutic use), Exons (genetics), Female, Gene Amplification, Genotype, Glucosylceramidase (genetics), Heterozygote, Humans, Levodopa (therapeutic use), Male, Middle Aged, Mutation (genetics), Parkinson Disease (genetics), Parkinson Disease (physiopathology), Parkinson Disease (therapy), Phenotype, Polymerase Chain Reaction, Protein-Serine-Threonine Kinases (genetics), Ubiquitin-Protein Ligases (genetics), Young Adult.
- MESH :
- chemical , genetics : Glucosylceramidase, Protein-Serine-Threonine Kinases, Ubiquitin-Protein Ligases.
- chemical , therapeutic use : Antiparkinson Agents, Dopamine Agents, Levodopa.
- genetics : Exons, Mutation, Parkinson Disease.
- physiopathology : Parkinson Disease.
- therapy : Parkinson Disease.
- Adult, Age of Onset, Child, Deep Brain Stimulation, Female, Gene Amplification, Genotype, Heterozygote, Humans, Male, Middle Aged, Phenotype, Polymerase Chain Reaction, Young Adult.
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 (l-dopa), and DBS responsiveness. An unprecedented number (29%) of patients tested positive for at least 1 of the currently known PD genes. Patients with Parkin mutations presented at the youngest age but had many years of disease before needing DBS, whereas glucocerebrosidase (GBA) mutation carriers reached the threshold of needing DBS earlier, and developed earlier cognitive impairment after DBS. DBS cohorts include large numbers of gene positive PD patients and can be clinically instructive in the exploration of genotype-phenotype relationships.
DOI: 10.1002/mds.25535
PubMed: 23818421
Links to Exploration step
pubmed:23818421Le document en format XML
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<front><div type="abstract" xml:lang="en">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 (l-dopa), and DBS responsiveness. An unprecedented number (29%) of patients tested positive for at least 1 of the currently known PD genes. Patients with Parkin mutations presented at the youngest age but had many years of disease before needing DBS, whereas glucocerebrosidase (GBA) mutation carriers reached the threshold of needing DBS earlier, and developed earlier cognitive impairment after DBS. DBS cohorts include large numbers of gene positive PD patients and can be clinically instructive in the exploration of genotype-phenotype relationships.</div>
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<Abstract><AbstractText>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 (l-dopa), and DBS responsiveness. An unprecedented number (29%) of patients tested positive for at least 1 of the currently known PD genes. Patients with Parkin mutations presented at the youngest age but had many years of disease before needing DBS, whereas glucocerebrosidase (GBA) mutation carriers reached the threshold of needing DBS earlier, and developed earlier cognitive impairment after DBS. DBS cohorts include large numbers of gene positive PD patients and can be clinically instructive in the exploration of genotype-phenotype relationships.</AbstractText>
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