BACKGROUND
Individuals with Parkinson's disease (PD) carrying GBA1 variants often develop advanced motor complications that prompt evaluation for deep brain stimulation (DBS). However, concerns about accelerated cognitive decline after DBS in GBA1 carriers complicate clinical decision making. A critical aspect that is...
E. Asimakidou, M. Avenali, J. Aasly et al.· Movement Disorders· 0 citations
BACKGROUND
Mutations in the glucocerebrosidase 1 (GBA1) and leucine-rich repeat kinase 2 (LRRK2) genes are associated with Parkinson's disease (PD) phenotype.
OBJECTIVE
To asses the contribution of genetic status to long-term survival of patients with PD.
METHODS
A total of 2039 PD patients with Ashkenazi ancestry...
Raz Rubin, R. Alcalay, Nurit Omer et al.· Movement Disorders· 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 α-Synucleinopathies are clinically and biologically heterogeneous disorders lacking reliable biomarkers to assist with early diagnosis, disease progression, patient stratification, and therapeutic targeting. Genetic variation is known to impact biomarker levels, influencing their utility and interpretation i...
E. Somerville, Lang Liu, Michael Ta et al.· Research Square· 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
Functional effect sizes correlated with pathway activation in patient-derived immune cells, altogether providing a framework for ACMG-based variant interpretation in which kinase activation can support PS3 functional evidence for reclassification of variants.
Anthea Cheung, Neringa Pratuseviciute, Kirsten Black et al.· medRxiv· 0 citations
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