Full sequencing and GWAS markers analysis of SNCA in RBD and progression to synucleinopathies.
Objective: To study the role of SNCA variants in REM sleep Behavior Disorder (RBD) and progression to synucleinopathies. Background: Individuals with properly diagnosed idiopathic RBD…Characterization of Noncoding Variant(s) Driving Genome-Wide Association of the PARK10 Locus in Autopsy-Proven Parkinson Disease and Controls.
Objective: Confirm the PARK10 locus as a major GWAS locus in autopsy-confirmed (AC) PD and AC controls and identify potential noncoding variants driving the association. …Genetic variants influencing dyskinesia; potential consequences for treatment in Parkinson’s disease
Objective: To examine the association between dyskinesia and haplotypes in the genes of three dopamine receptors (DRD1, DRD2 and DRD3) and of the Brain Derived…Data driven analysis for exploring phenotypic differences in patients with Parkinson’s disease with or without genetic mutations.
Objective: To explore, using a data driven statistical analysis method, discriminating phenotype features of disease in a large group of patients with Parkinson’s disease (PD)…A member of the HSP40/DNAJ family is a novel gene for early-onset parkinsonism
Objective: We aim to implicate novel genes/mutations using whole-exome sequencing (WES) in selected pedigrees. Background: Mutations have been identified in only 30% of familial parkinsonism.…Genome-wide DNA methylation analysis reveals epigenetic perturbations in Parkinson disease.
Objective: Several environmental exposures are known to affect the risk for PD. Because DNA methylation is affected by environmental variables, we investigated whether brain region-specific…Specific Bdnf variants are associated with suboptimal response to levodopa but not to other dopaminergic medications or deep brain stimulation in Parkinson’s disease
Objective: We examined the impact of rs6265 and other brain-derived neurotrophic factor (Bdnf) variants in two subject cohorts: 1) early-stage Parkinson’s disease (PD) subjects from…Parkinson’s disease GWAS risk loci and symptom progression
Objective: To assess whether GWAS identified Parkinson’s disease (PD) risk loci also influence symptom progression among patients. Background: Genetic factors have a considerable influence on…Gene associated differences in pre-diagnostic symptoms of Parkinson’s Disease: a retrospective study
Objective: To investigate whether glucocerebrosidase (GBA) L444P and leucine-rich repeat kinase 2 (LRRK2) G2385R and R1628P mutations are associated with different symptoms and manifesting patterns…Alterations in lipid metabolism modify GBA1-mediated neurodegeneration in a Drosophila model of Parkinson’s disease
Objective: To understand how glucocerebrosidase (GBA1) mutations increase susceptibility to Parkinson's disease (PD). Background: Our understanding of the pathogenesis PD remains limited, and currently no…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.