Bridging the Genomic Gap: Ancestry-Aware Polygenic Risk and Variant Discovery in African Parkinson’s Disease Cohorts
Objective: This study evaluates the shift from Euro-centric data to a diversified landscape. We aim to quantify the performance of European-derived Polygenic Risk Scores (PRS)…A Novel Genome Editing Strategy for Permanent and Precise Downregulation of α-Synuclein in Parkinson’s Disease
Objective: This work aims to develop and evaluate novel nonviral CRISPR-based genome editing strategies to achieve precise and durable transcriptional modulation of SNCA, enabling controlled…A CSF C Terminal α Synuclein Assay to Differentiate Multiple System Atrophy From Parkinson’s Disease
Objective: Differentiating MSA from PD is clinically challenging. We developed CSF assays to measure full length and major C‑terminally truncated α‑synuclein (αSyn) species for potential…A highly specific skin α-synuclein seed amplification assay for screening of synucleionpathies
Objective: To evaluate the performance of a skin α-synuclein seed amplification assay (skin_synSAA) as a screening test using samples from movement disorder subjects with uncertain…Genetic determinants of cognitive performance in Parkinson’s disease: impact of distal regulatory variation at the SNCA locus in the gp2 cohort
Objective: This study evaluates the association between a distal regulatory haplotype at the SNCA locus and cognitive performance, measured by the Montreal Cognitive Assessment (MoCA),…Multiplexed Serum Biomarkers for Differentiating the Parkinson’s Disease Continuum and Disease Severity
Objective: Reliable blood biomarkers for identifying the Parkinson’s disease (PD) spectrum and reflecting disease severity remain limited. We investigated whether multiple serum biomarkers could differentiate…Traumatic Brain Injury Exacerbates Parkinsonian Neurodegeneration Through Alpha Synuclein Dysregulation
Objective: This study aimed to determine whether repetitive mild traumatic brain injury exacerbates Parkinsonian neurodegeneration and promotes alpha synuclein pathology in an experimental model. Background:…Oligodendrocyte-Specific α-Synuclein Pathology is Linked to Severe Motor Phenotype in a Novel Mouse Model of Multiple System Atrophy
Objective: We characterized the formation of α-synuclein pathology and development of motor phenotypes in a mouse model of multiple system atrophy overexpressing human SNCA in…First-in-Human Single-Ascending-Dose Trial of ALN-SNCA, an Intrathecally Administered siRNA for Reducing α-synuclein, in Patients with Early-Stage Parkinson’s Disease
Objective: Development of a Phase 1, First-in-Human (FIH) clinical trial evaluating ALN-SNCA, a novel, intrathecally (IT) delivered small interfering RNA (siRNA) targeting SNCA mRNA to…A Systematic Review and Meta-Analysis of the Diagnostic Accuracy of Fluid Biomarkers in Parkinson’s Disease
Objective: Analyze current efforts and quality of fluid and tissue biomarkers in Parkinson’s Disease (PD) to offer insight into their utility for diagnosis vs healthy controls (HC). Background: Alpha-synuclein is emerging as the leading biomarker…
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