Frequency of the LRRK2 and GBA mutations in Russian population with Parkinson’s disease
Objective: To estimate the frequency of LRRK2 mutation (G2019S) and GBA mutations (N370S, L444P) and polymorphic variants (E326K, T369M) in PD and controls in the…Loss of VPS29 disrupts retromer function and synaptic transmission, leading to neurodegeneration in Drosophila
Objective: To understand the role of the retromer complex in the central nervous system(CNS), and its link to Parkinson's disease (PD) susceptibility. Background: Mutations in…A founder French-Canadian GBA mutation, p.W378G, as a cause for synucleinopathies and Gaucher disease
Objective: To examine and characterize founder GBA mutations in the French-Canadian (FC) population Background: GBA mutations are the most common genetic risk factors for Parkinson’s…Kufor-Rakeb syndrome and a rare ATP13A2 missense mutation in a Portuguese patient
Objective: To describe a genetically proven case of Kufor-Rakeb syndrome (KRS) in a young portuguese patient with juvenile parkinsonism. Background: Mutations in the ATP13A2 gene…A pilot study of plasma ubiquitin carboxyl-terminal hydrolase L1 (UCH-L1) as a potential blood-based biomarker in Parkinson’s disease
Objective: To determine plasma levels of UCH-L1 in patients with PD, and to investigate the association with both genetic (leucine-rich repeat kinase 2, LRRK2 and…PTRHD1 loss-of-function mutation in an African family with parkinsonism and intellectual disability
Objective: To investigate the clinical features and identify the disease-causing gene in a black South African family affected by juvenile-onset parkinsonism and intellectual disability. Background:…Identification and analysis of differential miRNA in exosomes of dopaminergic neurons overexpressing α-synuclein
Objective: The aim of this study was to compare the miRNA expression in secreted exosomes from dopaminergic neurons overexpressing α-synuclein with healthy neurons. Background: Exosomes,…Therapeutic Drug Monitoring and Pharmacogenetic Tests as Tools in Pharmacovigilance of Anti Parkinson’s Therapy
Objective: Parkinson's disease (PD) is the second most prevalent neurodegenerative disease worldwide, affecting more than 7 million people worldwide. However, treatment outcome in many patients…Parkinson-related CHCHD2 is necessary for oligomerization of ALS/FTD-related CHCHD10
Objective: Characterization of isogenic CHCHD2, CHCHD10, and CHCHD2/10 double knockout out cell lines with assays of mitochondrial function, mitochondrial sublocalization, and homo- and heterodimerization. Background:…Molecular mechanisms of GCH1-associated Parkinson’s disease
Objective: To unravel the molecular mechanisms by which loss of GCH1 function enhances the risk of Parkinson´s disease (PD). Background: Loss-of-function mutations in GCH1 are…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.