ArticleNPJ Parkinson's disease2025
A new LRRK2 variant in a family with Parkinson's disease affects binding to RAB8A.
Article in NPJ Parkinson's disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Rab8a dysregulation in Parkinson's disease: A convergence of genetic and molecular pathologies.Molecular biology reports · 2026Review
- Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset.NPJ Parkinson's disease · 2026Article
- Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.medRxiv : the preprint server for health sciences · 2025Article
- Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.International journal of molecular sciences · 2025Article
- ThemedRxiv : the preprint server for health sciences · 2025Article
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Authors and funding
8 authors.
Funding
Abstract
Pathogenic variants in the LRRK2 gene affecting catalytic domains are the most common genetic cause of Parkinson's disease (PD). Nevertheless, LRRK2 variants at the armadillo (ARM) domain would indirectly affect the protein's activity by interacting with RAB proteins. We present a family with PD recurrence segregating the new LRRK2 allele at the ARM domain, p.[Leu.119Pro;Leu488Pro]. Clinical exams were conducted on nine relatives. Neuropathology of the index case showed loss of substantia nigra neurons and Alzheimer's disease-type lesions. In silico analysis of the p.[Leu.119Pro;Leu488Pro] LRRK2 variant predicted alterations in ARM tertiary structure and binding affinity. These predictions were supported by functional genomics using recombinant LRRK2
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