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…Association of GALC, ZNF184 and rs2280104 with PD in southern Chinese
Objective: The aim of the study was to investigate the relationship between 12 single nucleotide polymorphisms (SNPs) and Parkinson’s disease (PD) in Chinese population. Background:…Increased Parkin expression in a PARK20 (SYNJ1 mutation) iPSCs-based model
Objective: To generate mechanistic insight into how the SYNJ1 p.Arg258Gln mutation leads to neurodegeneration in juvenile Parkinsonism. Background: In humans, the SYNJ1 homozygous p.Arg258Gln missense…Knockdown of eEF1A2 reduced neuronal survival in a SH-SY5Y cellular model of Parkinson’s disease through the PI3K/Akt/mTOR pathway
Objective: To investigate whether eEF1A2 promotes neuronal survival through PI3K/Akt/mTOR pathway in a toxin-induced Parkinson’s disease model. Background: Parkinson’s disease is a common neurodegenerative disorder…PD associated with GBA and LRRK2 mutations: Genotype-phenotype correlation
Objective: To study differences in disease characteristics in PD associated with 1 or 2 mutations in the most common PD-associated genes in the Ashkenazi Jewish…Application of the Movement Disorder Society Prodromal Criteria in healthy G2019S-LRRK2 carriers
Objective: To evaluate the MDS prodromal criteria in first-degree relatives of Ashkenazi Jewish G2019S-LRRK2 PD patients, who are considered a population at risk for developing…Survival of patients with Parkinson’s disease is influenced by the mutations in the LRRK2 but not GBA gene
Objective: To assess the impact of common genetic mutations on Parkinson's disease survival. Background: The prognosis of Parkinson's disease (PD) is heterogeneous with many factors…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.