Publications by authors named "Andy Singleton"
Background: Aggregation of α-synuclein is central to the pathophysiology of PD. Biomarkers related to α-synuclein may be informative for PD diagnosis/progression.
Objectives: To analyze α-synuclein in CSF in drug-naïve PD, healthy controls, and prodromal PD in the Parkinson's Progression Markers Initiative.
Objective: To analyze longitudinal levels of CSF biomarkers in drug-naive patients with Parkinson disease (PD) and healthy controls (HC), examine the extent to which these biomarker changes relate to clinical measures of PD, and identify what may influence them.
Methods: CSF α-synuclein (α-syn), total and phosphorylated tau (t- and p-tau), and β-amyloid 1-42 (Aβ42) were measured at baseline and 6 and 12 months in 173 patients with PD and 112 matched HC in the international multicenter Parkinson's Progression Marker Initiative. Baseline clinical and demographic variables, PD medications, neuroimaging, and genetic variables were evaluated as potential predictors of CSF biomarker changes.
A GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of familial and sporadic amyotrophic lateral sclerosis and frontotemporal dementia. There is suggestion that these expansions may be a rare cause of parkinsonian disorders such as progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and corticobasal degeneration (CBD). Screening the C9orf72 gene in 37 patients with features of corticobasal syndrome (CBS) detected an expansion in 3 patients, confirmed by Southern blotting.
View Article and Find Full Text PDFTREM and TREM-like receptors are a structurally similar protein family encoded by genes clustered on chromosome 6p21.11. Recent studies have identified a rare coding variant (p.
View Article and Find Full Text PDFArticle Synopsis
- Genome-wide association studies (GWAS) have pinpointed several common risk variants for late-onset Alzheimer's disease (LOAD), which have small effects and lack clear functional significance.
- Whole-exome sequencing identified a rare variant in the PLD3 gene that significantly increases the risk of LOAD, showing effects across diverse populations.
- The study suggests that PLD3 affects the processing of amyloid-β precursor protein, linking genetic variants to a twofold increased risk for Alzheimer's and emphasizing the importance of studying affected families to uncover rare, impactful variants.