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- Title
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease.
- Authors
Heijer, Jonas M.; Hilten, Jacobus J.; Kievit, Anneke J.A.; Bonifati, Vincenzo; Groeneveld, Geert Jan
- Abstract
Keywords: genetic risk factor; genetic testing; glucocerebrosidase; heredity; trial EN genetic risk factor genetic testing glucocerebrosidase heredity trial 33 36 4 01/06/21 20210101 NES 210101 Apart from the GWAS risk loci, variants in the I GBA1 i gene are the most common risk factor known to date to develop Parkinson's disease (PD).1,2 Genetic testing and counseling of I GBA1 i variants is not yet part of common clinical practice, but the need for this will likely increase because research into this topic has increased considerably during the past two decades and genetic testing will become more common. I GBA1 i encodes the lysosomal enzyme glucocerebrosidase and is considered one of the most promising potential targets for the development of a disease-modifying drug for PD.6 In light of these developments, a growing number of patients with PD are being screened for I GBA1 i variants. We recently performed a large-scale full I GBA1 i gene screening in 3402 people with PD in the Netherlands.9 In most populations, 4% to 12% of patients with PD carry a heterozygous I GBA1 i variant, and in Ashkenazi Jewish patients with PD this is approximately 20%.2,10 In our Dutch cohort, a remarkably high prevalence of 15.5% exonic or splice site variants was found. The age-specific incidence rate of PD of course increases beyond the age of 60 years.33 I GBA1 i can therefore be seen as a modifier of the PD risk, or risk factor in PD, and play a role in the complex disease etiology as such.
- Subjects
PARKINSON'S disease; GENETIC counseling; GAUCHER'S disease; DEEP brain stimulation; BIOETHICS
- Publication
Movement Disorders Clinical Practice, 2021, Vol 8, Issue 1, p33
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.13098