Familial Parkinson’s disease in the Province of Quebec
Objective: We describe clinical, genealogic and genetic studies in several families with multi-incident Parkinson's disease (PD). Background: PD is a multifactorial trait for which components…Clinical exome sequencing – diagnostic yield in a sample of German patients with Parkinson’s disease
Objective: To assess the diagnostic yield of clinical exome sequencing (CES) in individuals with Parkinson's disease (PD) seen in a specialized movement disorder clinic. Background:…Coding and non-coding glucocerebrosidase variants have an impact on cognitive decline in Parkinson’s disease
Objective: To evaluate the impact of genetic variants in the Glucocerebrosidase gene (GBA) on cognitive impairment in a large cohort of Parkinson's disease (PD) patients…Longitudinal evaluation of motor and non motor symptoms among LRRK2 risk variants
Objective: To evaluate the clinical characteristics and progression of Parkinson's disease (PD) in patients with Asian-related LRRK2 variants, G2385R, R1628P and S1647T. Methods: A total…High throughput pooled-DNA sequencing of mendelian/susceptibility Parkinson’s disease genes in Spanish population
Objective: The primary outcome of our study was the identification of rare variants in 5 major Mendelian PD genes (SNCA, PARK2, PINK1, DJ1, LRRK2) and…Study on association between physical and genetics role in essential tremor – A case control study
Objective: To elucidate the relationships between physical and genetics parameters in essential tremor patients and controls. Tremor is an involuntary, rhythmic shaking of any part…Interest in genetic testing in Parkinson’s disease patients with deep brain stimulation
Objective: To determine interest in genetic testing in Parkinson's disease (PD) patients with deep brain stimulation (DBS). Background: Approximately 27% of early-onset PD patients with…SMPD1 mutations, acid-sphingomyelinase activity and α-synuclein accumulation in Parkinson’s disease
Objective: To study the effects of SMPD1 (sphingomyelin phosphodiesterase-1 gene) variants and acid-sphingomyelinase (ASMase) activity on Parkinson's disease (PD), and the effect of SMPD1 knockdown…Assessment of Parkinson’s disease risk loci as DNA methylation quantitative trait loci
Objective: To gain potential mechanistic insight into the pathogenesis of Parkinson's disease (PD), a map of DNA methylation in normal human brain assessing 486,428 CpG…Analysis of the genetic variability in Parkinson’s disease from southern Spain
Objective: Our study was to assess the contribution of known genes in a cohort diagnosed with either familial (FPD) or early-onset sporadic PD (EOPD) from…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.