Diagnostic utility of a targeted resequencing technique of next generation sequencing in detecting copy number changes in PARK2
Objective: We investigate feasibility of Next Generation Sequencing (NGS) targeted sequencing technique using Ampliseq® technology by Ion PGM® to detect copy number variation mutation in…Analysis of gene polymorphisms of Parkinson’s disease in Han Chinese population
Objective: Sequencing of Parkinson Disease（PD) genes were used in our research in order to study the polymorphism of PD related genes of Chinese Han people.…The Parkinson’s Families Project: A family-based study of early onset and familial Parkinson’s disease
Objective: The aim of this study is to identify new genetic variants that cause or predispose to Parkinson’s disease (PD). Our secondary aim is to…LRRK2 p.Leu119Pro and p.Leu488Pro in a family with neuropathologycally confirmed Parkinson´s disease without Lewy bodies
Objective: To describe the clinical features, genetic analysis and brain pathology of some members of a family affected by Parkinson´s disease. Background: Mutations of the…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:…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.