Novel GBA risk factor gene mutation p.W378R in a kindred with Gaucher’s disease and Parkinson’s disease
Objective: We undertook mutation analysis of the Glucocerebrosidase gene (GBA) gene in a large three-generational Australian kindred consisting of some individuals with both type 1…PLA2G6-related juvenile-onset Parkinsonism: clinical features and cognitive profile in a cohort of Chinese patients
Objective: Among young or juvenile onset Parkinson (PD) patients, we assessed cognitive and clinical performances, comparing homozygotes and compound heterozygotes who carry PLA2G6 pathogenic mutations…Adult neurogenesis is impaired in pink1-/- zebrafish (Danio rerio)
Objective: To determine whether PINK1 deficiency impairs adult neurogenesis in a tractable vertebrate model of PINK1-related Parkinson's disease (PD). Background: PD is characterized by loss…MicroRNA expression misregulation in iPSC-derived dopaminergic neurons from sporadic and LRRK2-associated Parkinson disease patients
Objective: To investigate whether miRNA expression alterations occur in iPSC-derived DAn from sporadic PD (sPD) as well as monogenic LRRK2-associated PD patients. Background: MicroRNA (miRNA)…Computational and Biochemical analysis of lipid raft proteins: A new perspective approach to understand the progression of late onset Parkinson’s disease
Objective: In the current study we report mutations, particularly inPARK-7 gene and their impact on understanding the pathophysiology of Parkinson’s disease (PD); it also lays…Integrated whole exome sequencing and chromosomal microarray in familial Parkinson’s disease
Objective: To determine whether whole exome sequencing (WES) plus chromosomal microarray analysis (CMA) yield a genetic etiology in a cohort of 110 individuals with familial…Resistance to Parkinson’s disease among LRRK2 mutation carriers is associated with higher plasma levels of urate but not its purine precursors
Objective: To determine whether plasma purine concentrations differ between people with Parkinson's disease (PD) and matched controls among carriers of pathogenic mutations in Leucine-Rich Repeat…Comparison of thermal sensation and pain thresholds in LRRK2 carriers and non carriers with Parkinson’s disease
Objective: To compare between clinical findings and quantitative sensory testing (QST) data in patients with Parkinson's disease (PD) positive and negative for mutations in LRKK2.…MANF improves the MPP+/MPTP-induced Parkinson’s disease via improvement of mitochondrial function and inhibition of oxidative stress
Objective: This study aimed to investigate the therapeutic effect of mesencephalic astrocyte-derived neurotrophic factor (MANF) on the MPTP/MPP+-induced model of Parkinson's disease (PD) and the…Interest in Genetic Testing in PD Patients with DBS
Objective: Determine interest in genetic testing (GT) among PD patients with DBS. Background: About 26-29% of PD patients who undergo DBS have a mutation in…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.