The characterization of prominent VUS in OMIM-associated genes and a novel LRRK2 structural variant undetected by routine MLPA highlights the evolving complexity of PD genetics and the critical need for integrating comprehensive, read-depth-based CNV analysis into standard pipelines.
WES proved valuable in detecting rare pathogenic variants in Brazilian patients, uncovering atypical phenotypes and expanding the spectrum of genetic findings, highlighting the need for broader genetic studies in admixed populations to refine diagnostics and better characterize such unique cohorts.
M. G. Ferreira, C. Tesson, T. Courtin et al.· Parkinsonism & Related Disor...· 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
Asymptomatic female carriers of the XDP-associated TAF1 variant exhibit significant striatal neurodegeneration and iron accumulation, indicating a dominant-negative effect despite X-linked inheritance.
H. Hanssen, C. Diesta, M. Heldmann 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
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.
J. Shin, M. T. Periñán, J. W. Jang et al.· medRxiv· 0 citations
The results highlight the need for a unified diagnostic framework for ATP1A3-related disorders and demonstrate the feasibility and scientific value of coordinated rare disease research in resource-limited settings.
Victor Rebelo Procaci, Raphael Pinheiro Camurugy da Hora, Anna Maria Gomes et al.· Neurology: Genetics· 0 citations
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