Genetics
Genes implicated in Parkinson's risk and progression: LRRK2, GBA1, SNCA, PARK7, PRKN, PINK1 and others.
In this category
State of the art
No update yet for Genetics. An update is a standalone state-of-the-art for the topic — what someone with Parkinson's needs to know about where this approach stands today.
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Genome-wide association and population-tailored polygenic risk for Parkinson’s disease in Taiwan Polygenic risk & GWAS
This first Taiwan-wide PD GWAS shows that a European-derived 90-variant polygenic risk score achieves only modest discrimination (AUC 0.59) in Taiwanese patients, while a compact 16-variant panel tailored to East Asian and Taiwan-specific loci reaches AUC 0.62 — supporting the need for ancestry-matched risk tools. -
Co‐ and Multi‐Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review
The review highlights how APOE ε4 and the MAPT H1 haplotype — genetic variants originally characterised in Alzheimer's disease — increase susceptibility to Alzheimer-type co-pathology in PD, helping explain why cognitive decline risk varies so dramatically between individuals who share the same PD diagnosis; LRRK2 variants are also discussed as a bridge between PD and multiple co-pathologies via immune function. -
PD GENEration: An International Parkinson's Disease Genetic Research Study GBA1
The international expansion of PD GENEration — now including Latin American and Israeli cohorts alongside North America — confirms GBA1 as the most common genetic contributor to Parkinson's across diverse populations, found in approximately 7.7% of participants in the North American phase. Population-specific variant frequencies differ across ancestries, underscoring the value of broad, international testing rather than restricting testing to high-risk ethnic groups. -
バイオジェンとデナリ、パーキンソン病治療薬の開発を中止 執筆 - Investing.com - FX | 株式市場 | ファイナンス | 金融ニュース LRRK2
The LUMA failure sharpens the question of whether LRRK2 inhibition is only relevant for people who actually carry an LRRK2 pathogenic variant. Denali's ongoing BEACON Phase 2a study in LRRK2-variant carriers is now the key remaining test of this hypothesis, with results expected H1 2027 — making genetic status increasingly important for trial eligibility. -
Multi-locus genetic dosage shapes cognitive disease progression in Parkinson’s patients: 15-year meta-analysis of 24 cohorts GBA1
In this 24-cohort meta-analysis, GBA1 variants showed the strongest individual effect among the five loci studied (HR 2.09 for dementia), and their contribution compounds when co-occurring with APOE e4 or RIMS2 variants. This reinforces GBA1 carriers as a high-priority subgroup for cognitive monitoring and future dementia-prevention trials, independent of their motor trajectory. -
Parkinson's Disease.
The review positions genetic testing as clinically actionable today: LRRK2 variants, GBA1 variants, and rarer mutations such as SNCA duplications each carry distinct prognoses and are now linked to specific drugs in clinical trials. The authors state that detecting these gene variants "may inform prognosis and, potentially, treatment"—a shift from genetics as research curiosity to genetics as a guide for personalized care. -
Preformed fibrils of α-synuclein rapidly activate LRRK2 on early endosomes, driving Rab5 phosphorylation and disrupting endolysosomal and synaptic function
LRRK2 is best known as a gene mutated in hereditary PD, but this study demonstrates that LRRK2 hyperactivation is triggered by alpha-synuclein aggregation even without a LRRK2 mutation, broadening the gene's relevance to sporadic (non-inherited) PD.