Journal
MOVEMENT DISORDERS
Volume 28, Issue 10, Pages 1370-1375Publisher
WILEY
DOI: 10.1002/mds.25535
Keywords
genetics; Parkinson's disease; phenotype; deep brain stimulation; heterogeneity
Categories
Funding
- Parkinson's UK [K-0901]
- National Institute for Health Research (NIHR) UCL/UCLH Biomedical Research Centres funding Scheme
- Wellcome Trust/Medical Research Council (MRC)
- MRC [MC_G1000735, G0701075] Funding Source: UKRI
- Medical Research Council [MC_G1000735, G0701075] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0507-10376] Funding Source: researchfish
- Parkinson's UK [K-0901] Funding Source: researchfish
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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.
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