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…Motor and Nonmotor clinical phenotype in LRRK2 Parkinson’s disease patients: a Case-control study
Objective: Our study aimed to characterize and compare the clinical phenotype of LRRK2-PD patients with PD patients with no identified mutations. Background: The clinical phenotype…Kufor-Rakeb Syndrome due to a Novel ATP13A2 Mutation in two Chinese brothers
Objective: To describe Kufor-Rakeb Syndrome (KRS) due to a novel ATP13A2 1459 C>T mutation in two Chinese siblings. Background: Kufor-Rakeb Syndrome is a rare autosomal…Early-Onset Parkinson Disease with Hypocalcemia: Adult Presentation of 22q11.2 Deletion Syndrome
Objective: Report a case of early-onset Parkinson Disease with hypocalcemia and mild dysmorphic features leading to diagnosis of 22q11.2 deletion syndrome Background: The 22q11.2 Deletion Syndrome is…Are there genotype-phenotype correlations in Perrys syndrome?
Objective: To examine genotype-phenotype correlations in a cohort of three patients with Perrys syndrome. Background: Perrys syndrome is a rare cause of familial parkinsonism. Since the…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.