ArticleNeurogenetics2009
Lrrk2 R1441G-related Parkinson's disease: evidence of a common founding event in the seventh century in Northern Spain.
Article in Neurogenetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Association of Subthalamic Deep Brain Stimulation With Motor, Functional, and Pharmacologic Outcomes in Patients With Monogenic Parkinson Disease: A Systematic Review and Meta-analysis.JAMA network open · 2019Pooled it
- Genetic mutations in kinases: a comprehensive review on marketed inhibitors and unexplored targets in Parkinson's disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- The Evolution of Genetic Variability at theGenes · 2024Article
- Different pieces of the same puzzle: a multifaceted perspective on the complex biological basis of Parkinson's disease.NPJ Parkinson's disease · 2023Review
- Overview of the Impact of Pathogenic LRRK2 Mutations in Parkinson's Disease.Biomolecules · 2023Review
- Local genetic variation of inflammatory bowel disease in Basque population and its effect in risk prediction.Scientific reports · 2022Article
- R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils.Acta neuropathologica · 2021Article
- Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson's disease cohort.Human molecular genetics · 2021Article
- Variable frequency ofNPJ Parkinson's disease · 2017Article
- Human R1441C LRRK2 regulates the synaptic vesicle proteome and phosphoproteome in a Drosophila model of Parkinson's disease.Human molecular genetics · 2016Article
- The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2016Article
- Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.Orphanet journal of rare diseases · 2016Article
- Identification of a Japanese family with LRRK2 p.R1441G-related Parkinson's disease.Neurobiology of aging · 2014Article
- Is inhibition of kinase activity the only therapeutic strategy for LRRK2-associated Parkinson's disease?BMC medicine · 2012Review
- Reevaluation of phosphorylation sites in the Parkinson disease-associated leucine-rich repeat kinase 2.The Journal of biological chemistry · 2010Article
Corrections and comments
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Authors and funding
18 authors.
Funding
Abstract
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene together represent the most common genetic determinant of Parkinson's disease (PD) identified to date. The vast majority of patients with LRRK2-related PD reported in the literature carry one of three pathogenic substitutions: G2019S, R1441C, or R1441G. While G2019S and R1441C are geographically widespread, R1441G is most prevalent in the Basque Country and is rare outside of Northern Spain. We sought to better understand the processes that have shaped the current distribution of R1441G. We performed a haplotype analysis of 29 unrelated PD patients heterozygous for R1441G and 85 wild-type controls using 20 markers that spanned 15.1 Mb across the LRRK2 region. Nine of the patients were of Basque origin and 20 were non-Basques. We inferred haplotypes using a Bayesian approach and utilized a maximum-likelihood method to estimate the age of the most recent common ancestor. Significant but incomplete allele sharing was observed over a distance of 6.0 Mb and a single, rare ten-marker haplotype 5.8 Mb in length was seen in all mutation carriers. We estimate that the most recent common ancestor lived 1,350 (95% CI, 1,020-1,740) years ago in approximately the seventh century. We hypothesize that R1441G originated in the Basque population and that dispersion of the mutation then occurred through short-range gene flow that was largely limited to nearby regions in Spain.
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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.