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…Meta-analysis of the interaction between HLA-DRB1 and smoking with Parkinson’s disease
Objective: To investigate interactions between HLA-DRB1 rs660895 polymorphisms and smoking in PD using meta-analysis to pool data from three large population-based studies. Background: Inflammatory response…Association analyses of three susceptibility loci for Alzheimer’s disease in Parkinson’s disease, amyotrophic lateral sclerosis, and multiple system atrophy
Objective: Considering the overlapping of clinical manifestation and pathologic characteristics of Alzheimer’s disease (AD) and Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and multiple system…Expression of OX40 and OX40 serum level in patients with Parkinson’s disease
Objective: Study the expression of OX40 gene and its serum levels could be measured to predict and confirm diagnosis of Parkinson's disease and help develop new…Neuromelanin Magnetic Resonance Imaging of the Substatia Nigra in LRRK2 -related Parkinson’s disease
Objective: Our study aimed to evaluate neuromelanin-Magnetic Resonance signal changes in PD patients carrying a LRRK2 mutation. Background: Specific magnetic resonance (MR) sequences are able to…Parkinsonian Features in a Cohort of Gaucher’s Disease (GD) Patients and Relatives.
Objective: to investigate the prevalence and clinical features of parkinsonism in a cohort of 21 GD patients and their relatives. Background: GD is a lysosomal…Genetic and pharmacological rescue of DJ-1 loss-of-function caused by a c.192G>C mutation in PARK7
Objective: In this study we investigate the cellular mechanism underlying the Parkinson’s disease (PD)-associated mutation c.192G>C in PARK7 and present a compound treatment that rescues…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.