GCH1 pathogenic variants were associated with a clinically distinct phenotype characterized by earlier disease onset and slower progression of motor complications, suggesting that GCH1 genetic variants may serve as genetic biomarkers for patient stratification and prognosis in PD.
The first pathway resolved South Asian genetic profile and a framework for comparative studies across populations are provided, with different contributions from P/LP-associated and VUS associated gene sets.
R. Menon, A. I. Khan, D. Elangovan et al.· medRxiv· 0 citations
By expanding the reported spectrum of disease-associated variants in a Latin American population, this work identified previously unreported or underrepresented variants that would likely be missed by array-based or targeted screening approaches and contribute to the characterization of EOPD and familial PD in Latin Am...
E. Waldo, H. M. Chaparro-Solano, M. Isayan et al.· medRxiv· 0 citations
Heritability in Parkinson’s disease (PD) may be driven by rare variants (RVs), but genetic data for Chinese cohorts remain limited. We investigated the relationship between RVs and the risk and phenotype of PD by performing targeted exome sequencing of 29 PD candidate genes in 311 late-onset, sporadic Chinese PD patien...
Ryan Wui-Hang Ho, Ze-Wei Xiong, Rachel C. N. Lo et al.· International Journal of Mol...· 0 citations
Data from this single-center cohort demonstrate considerable variability in GD-PD among GD1 individuals and suggest that GD1 patients may have increased risk of GD-PD before the age of 50.
Ayuko Iverson, D. Sinha, Luca Fierro et al.· Molecular Genetics and Metab...· 0 citations
Background An X-linked levodopa-responsive parkinsonism-epilepsy syndrome has been associated with PGK1, and the gene lies within the previously suspected PD locus PARK12. Objective To examine the association of common and rare PGK1 variants with PD. Methods We analyzed common and rare variants from Accelerated Medicin...
L. V. Chifamba, S. C. Parlar, L. Liu et al.· medRxiv· 0 citations
These findings improve the understanding of the genetics of PD across ancestry groups and highlight the importance of including diverse populations in genetic studies to identify ancestry-specific risk variants.
Q. Sun, E. Ng, T. S. Toh et al.· medRxiv· 0 citations
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