Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study
Saar Anis1, Caroline Weill2, Penina Ponger3
1Movement Disorders Institute, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel; Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel; Center for Neurological Restoration, Neurological Institute, Cleveland Clinic Foundation, Cleveland, USA.
Parkinsonism & Related Disorders
|July 5, 2025
Summary
Genetic testing for Parkinson's disease (PD) in Israel is beneficial, with most positive results linked to LRRK2 and GBA1 gene variants. This study highlights the value of genetic screening for PD patients in this population.
Area of Science:
- Neuroscience
- Genetics
- Medical Research
Background:
- Parkinson's disease (PD) genetic landscape in Israel is influenced by prevalent GBA1 risk variants and LRRK2 p.Gly2019Ser pathogenic variant in the Ashkenazi Jewish population.
- Investigating the diagnostic yield of large-scale genetic testing is crucial for understanding PD etiology in diverse populations.
Purpose of the Study:
- To evaluate the clinical utility and yield of comprehensive genetic testing for Parkinson's disease patients in Israel.
- To identify the prevalence of specific genetic variants, particularly in LRRK2 and GBA1, within the Israeli PD patient cohort.
Main Methods:
- Data from 2699 Parkinson's disease patients across Israeli movement disorder clinics (ROPAD study) were analyzed.
- Patients underwent genetic testing for variants in eight PD-related genes and 37 genes associated with phenotypic overlap.
Main Results:
- A positive Parkinson's Disease Genetic Test (PDGT) result was observed in 19.0% of participants.
- LRRK2 variants (primarily p.Gly2019Ser) and GBA1 variants (primarily p.Asn409Ser) were the most frequent findings, accounting for 6.9% and 10.5% of cases, respectively.
- Excluding LRRK2 and GBA1 variants, the overall yield of PDGT was 1.2%.
Conclusions:
- Large-scale genetic testing is beneficial for Parkinson's disease patients in Israel.
- The diagnostic yield is predominantly driven by pathogenic variants in LRRK2 and GBA1 genes.
Related Concept Videos
01:15Parkinson's Disease: Overview
716
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
716
01:24Parkinson's Disease: Treatment
389
Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
389