ArticleParkinsonism & related disorders2016
LRRK2 variation and dementia with Lewy bodies.
Article in Parkinsonism & related disorders, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 56 citations in OpenAlex.
- LRRK2 and GBA1 in Lewy body diseases: neuropathological subtypes at opposite ends of a spectrum?Molecular neurodegeneration · 2026Review
- The mechanisms underlying TDP-43-associated neurodegeneration in Alzheimer's disease and related dementias.Molecular psychiatry · 2025Review
- LRRK2 kinase-mediated accumulation of lysosome-associated phospho-Rabs in tauopathies and synucleinopathies.Acta neuropathologica · 2025Article
- The potential of brain organoids in addressing the heterogeneity of synucleinopathies.Cellular and molecular life sciences : CMLS · 2025Review
- Review
- Parkinson's Disease and Dementia with Lewy Bodies: One and the Same.Journal of Parkinson's disease · 2024Review
- Investigation of the genetic aetiology of Lewy body diseases with and without dementia.Brain communications · 2024Article
- Investigation of the genetic aetiology of Lewy body diseases with and without dementia.medRxiv : the preprint server for health sciences · 2023Article
- LRRK2 and Parkinson's disease: from genetics to targeted therapy.Annals of clinical and translational neurology · 2023Review
- GBA-associated PD: chances and obstacles for targeted treatment strategies.Journal of neural transmission (Vienna, Austria : 1996) · 2022Review
- Association between CSF alpha-synuclein seeding activity and genetic status in Parkinson's disease and dementia with Lewy bodies.Acta neuropathologica communications · 2021Article
- Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges.International journal of molecular sciences · 2021Review
- Novel Associations ofNeurology · 2021Article
- Genetic and Environmental Factors Influence the Pleomorphy ofInternational journal of molecular sciences · 2021Review
- GTP-binding inhibitors increase LRRK2-linked ubiquitination and Lewy body-like inclusions.Journal of cellular physiology · 2020Article
- Role ofThe Indian journal of medical research · 2020Article
- Dementia with Lewy bodies: an update and outlook.Molecular neurodegeneration · 2019Review
- The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions.Current neurology and neuroscience reports · 2018Review
- Dementia with Lewy bodies and Parkinson's disease-dementia: current concepts and controversies.Journal of neural transmission (Vienna, Austria : 1996) · 2018Review
- Case-control analysis of LRRK2 protective variants in Essential Tremor.Scientific reports · 2018Article
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Authors and funding
29 authors at 6 institutions in 2 countries.
Funding
Abstract
introductionThe leucine-rich repeat kinase 2 (LRRK2) gene contains several variants that cause Parkinson's disease (PD) and others that modify PD risk. However, little is known about the role of LRRK2 in dementia with Lewy bodies (DLB). Aims of this study were to screen DLB patients for pathogenic LRRK2 variants and to evaluate associations between common LRRK2 variants and risk of DLB.
methods417 clinical DLB patients and 1790 controls were included in the primary analysis. Additionally, 355 Lewy body disease patients assessed as having a high likelihood of clinical DLB based on neuropathological findings were included in secondary analysis. Seven pathogenic LRRK2 variants were assessed in patients, while 17 common LRRK2 exonic variants and 1 GWAS-nominated common LRRK2 PD-risk variant were evaluated for association with DLB.
resultsWe identified carriers of 2 different pathogenic LRRK2 variants. One clinical DLB patient was a p.G2019S carrier, while in the pathological high likelihood DLB series there was one carrier of the p.R1441C mutation. However, examination of clinical records revealed the p.R1441C carrier to have PD with dementia. Evaluation of common variants did not reveal any associations with DLB risk after multiple testing adjustment. However, a non-significant trend similar to that previously reported for PD was observed for the protective p.N551K-R1398H-K1423K haplotype in the clinical DLB series (OR: 0.76, P = 0.061).
conclusionLRRK2 does not appear to play a major role in DLB, however further study of p.G2019S and the p.N551K-R1398H-K1423K haplotype is warranted to better understand their involvement in determining DLB risk.
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