ReviewJournal of neural transmission (Vienna, Austria : 1996)2009
The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews.
Review in Journal of neural transmission (Vienna, Austria : 1996), 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 30 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
I123 DAT-SCAN and PET-CT FDG to Assess Brain Function of Parkinson Patients With Different Genetic Characteristic
A Longitudinal Study in 1st Degree Relatives of Parkinson's Disease (PD) Patients
Who cites it
30 citing papers in PubMed, 63 citations in OpenAlex.
- DaT-SPECT assessment depicts dopamine depletion among asymptomatic G2019S LRRK2 mutation carriers.PloS one · 2017Trial
- High frequency of LRRK2 p.Gly2019Ser in Moroccan Parkinson's disease: RFLP as a reliable genotyping approach.Neurogenetics · 2026Article
- Advancing Parkinson's Disease Research in Africa: A Strategic Training Framework of the Global Parkinson's Genetics Program.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Article
- Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches.International journal of molecular sciences · 2024Review
- Advancements in Genetic and Biochemical Insights: Unraveling the Etiopathogenesis of Neurodegeneration in Parkinson's Disease.Biomolecules · 2024Review
- Differences in EEG Event-Related Potentials during Dual Task in Parkinson's Disease Carriers and Non-Carriers of the G2019S-LRRK2 Mutation.Sensors (Basel, Switzerland) · 2023Article
- Population history modulates the fitness effects of Copy Number Variation in the Roma.Human genetics · 2023Article
- Imaging Markers in Genetic Forms of Parkinson's Disease.Brain sciences · 2023Review
- LRRK2 phosphorylation status and kinase activity regulate (macro)autophagy in a Rab8a/Rab10-dependent manner.Cell death & disease · 2023Article
- Review
- Pathological and Therapeutic Advances in Parkinson's Disease: Mitochondria in the Interplay.Journal of Alzheimer's disease : JAD · 2023Review
- PROTACs: great opportunities for academia and industry (an update from 2020 to 2021).Signal transduction and targeted therapy · 2022Review
- The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes.International journal of molecular sciences · 2021Review
- Accelerated telomere shortening independent of LRRK2 variants in Chinese patients with Parkinson's disease.Aging · 2020Article
- Analysis of rare variants of autosomal-dominant genes in a Chinese population with sporadic Parkinson's disease.Molecular genetics & genomic medicine · 2020Article
- Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson's disease.Neurogenetics · 2019Article
- Network abnormalities among non-manifesting Parkinson disease related LRRK2 mutation carriers.Human brain mapping · 2019Article
- Compound heterozygous mutations in PARK2 causing early-onset Parkinson disease: A case report.Medicine · 2019Article
- Mechanisms of Parkinson's disease-related proteins in mediating secondary brain damage after cerebral ischemia.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the leucine rich repeat kinase 2 gene (LRRK2) are recognized as the most common cause of genetic Parkinsonism to date. The G2019S mutation has been implicated as an important determinant of Parkinson's disease (PD) in both Ashkenazi Jewish and North African Arab populations with carrier frequency of 29.7% among familial and 6% in sporadic Ashkenazi Jewish PD cases. PD patients with the G2019S mutation display similar clinical characteristics to patients with sporadic PD. While the function of the LRRK2 protein has yet to be fully determined, its distribution coincides with brain areas most affected by PD. The G2019S mutation is believed to be responsible for up-regulation of LRRK2 kinase activity, which may ultimately play a role in neuronal loss. The utility of LRRK2 G2019S screening in family members of Ashkenazi PD patients is discussed. LRRK2 G2019S mutation carriers without PD may be an ideal population for the study of possible neuroprotective strategies as they become available, and for furthering the understanding of the pathogenesis and long-term clinical outcomes of the disease.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.