Alteration of early endosomal trafficking causes neurodegeneration in PARK20
Objective: To elucidate the molecular basis of the Park20 by evaluating the role of synaptojanin 1 in intracellular trafficking. Background: Recently a new form of…Progression to Parkinson’s disease in carriers of LRRK2 G2019S mutation: a 4-year prospective study with serial dopamine transporter imaging
Objective: To assess whether any of the biomarkers studied (UPDRS-III, SN echogenicity, UPSIT and DaT-SPECT) in a baseline evaluation of a cohort of LRRK2 G2019S asymptomatic…Parkin (PARK 2) Mutations in Patients with Early-Onset Parkinson’s Disease
Objective: Genetic testing Parkin (PARK 2) gene in patients with young-onset Parkinson's disease in Belarus. Background: The diagnosis of young-onset Parkinson's disease (PD) is the same…Screening of GBA and LRRK2 G2019S Mutations in Egyptian Parkinson’s Disease Patients
Objective: We aim to estimate the frequency of mutations in the glucocerebrosidase gene (GBA) and LRRK2 G2019S in a yet unstudied Egyptian Parkinson's disease population from the…Rare variant analysis of the PPMI dataset to uncover the complex genetic architecture of Parkinson’s disease
Objective: To unravel the genetic factors that play a role in PD we used the whole exome sequencing data available as a part of Parkinson…Interest in Genetic Testing in Parkinson’s disease patients with DBS
Objective: To determine interest in genetic testing among Parkinson’s disease (PD) patients with deep brain stimulation (DBS). Background: Nearly 27% of patients with early-onset PD…The identification of molecular-genetic background of familial atypical parkinsonism in “Hornacko”, a specific region of the south-eastern Moravia, Czech Republic.
Objective: To assess the genetic background in the pedigrees with identified autosomal-dominant inheritance of parkinsonism. Background: Increased prevalence of parkinsonism with cognitive deterioration was detected…Glucocerebrosidase mutations in neurodegenerative disorders other than Parkinson’s disease
Objective: To determinate the frequencies of lysosomal glucocerebrosidase (GBA) common mutations in a large sample of neurodegenerative diseases including Alzheimer Disease (AD), Lewy Body Dementia (LBD), Amyotrophic…Genetic, epigenetic and expression profiles in alpha-synucleinopathies
Objective: To determine whether each of the alpha-synucleinopathies has distinct methylation and/or expression profiles that distinguishes them from other disorders in this class. Background: The…Exome sequencing in patients with impulse control disorders in Parkinson’s disease: a pilot study
Objective: To identify genetic variants associated with impulse control disorders (ICD) in Parkinson’s disease (PD) Background: ICD is frequently associated with dopamine agonist (DA) therapy…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.