Parkinson’s disease characteristics in patients with Gaucher’s disease
Objective: To assess the phenotype of Parkinson's disease (PD) patients in homozygote or compound heterozygote carriers of mutations in the β-glucocerebrosidase gene (GBA). Background: Gaucher's…Clinical phenotype of Parkinsonian patients with α-synuclein mutation: Our case report and review of the literature
Objective: To illustrate the case of a 60 years old woman with A53T point mutation derived Parkinson's disease (PD) and to review SNCA mutations phenotype,…Dopamine D3 receptor Ser9Gly variant is a risk factor for impulse control disorders in Parkinson’s disease
Objective: To test if the allelic variants of dopamine (DRD3), glutamate (GRIN2B) and serotonin (HTR2A) receptors are risk factors for ipulse control disorders (ICD) in…Lysosomal alterations in peripheral blood mononuclear cells of Parkinson’s disease patients
Objective: To identify potential systemic alterations in CMA and macroautophagy markers, and GBA levels/activity in Peripheral Blood Mononuclear Cells (PBMCs) isolated from PD patients with…Alpha-synuclein levels and dimerization in erythrocytes of Parkinson’s disease patients
Objective: To identify possible differences in monomeric/dimeric α-synuclein levels in erythrocytes derived from PD patients from different genetic backgrounds, and check for potential links between…Mitochondrial cardiolipin couples electron transport between ubiquinone and complex I to rescue PINK1 deficiency
Objective: Test the effect of loss of FASN on Pink1 deficiency. Background: PINK1 deficiency causes Parkinson's disease that is based on mitochondrial defects including inefficient…A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family
Objective: To present the clinical features and genetic findings of a Turkish family a new DJ1 mutation and presenting with early-onset levodopa responsive parkinsonism and…Investigation into the genetic etiology in South African Parkinson’s disease patients
Objective: To investigate the genetic etiology in a group of South Africa Parkinson's disease (PD) patients. Background: The genetic etiology of PD is complex and…Transcriptional profile of blood leukocyte in Parkinson’s disease patients after multi-modal exercise and tai chi training
Objective: With next-generation sequencing, we want to get a comprehensive characterization of circulating leukocyte in patients with PD, to interrogate the shared molecular processes perturbed…E326K GBA polymorphism and Parkinson’s disease in Russian population
Objective: Analysis the associations between the polymorphism E326K of the glucocerebrosidase gene (GBA) and Parkinson's disease (PD) in Russian population. Background: Parkinson's disease is one…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.