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.
BACKGROUND
Parkinsonism is a motor syndrome traditionally considered sporadic, but genetic factors are increasingly recognized. While next-generation sequencing (NGS) has identified pathogenic variants in Parkinson's disease (PD) and related disorders, data from admixed populations like Brazilians remain limited. This...
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
Background Parkinson's disease (PD), the most common neurodegenerative movement disorder, is commonly thought of as an aging and sporadic disease; however, 5-14% of individuals experience disease onset before the age of 50 years (early-onset PD; EOPD) and about 20% have a positive family history. In the case of both EO...
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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