Young-onset Parkinson’s disease in two siblings with compound heterozygosity for two rare parkin mutations
Objective: We report the clinical and genetic findings of two siblings who presented with early-onset Parkinson's disease (PD) and had two distinct parkin mutations, a…Familial Parkinson’s disease in Ireland
Objective: To study the phenotype and subtypes of familial Parkinson's disease (PD) in Ireland, establish the genetic background in a cohort of Irish PD patients…Inhibition of the mitochondrial calcium uniporter (MCU) rescues dopaminergic neurons in pink1-/- zebrafish
Objective: To further elucidate the interaction between mitochondrial calcium homeostasis and PINK1 deficiency in a zebrafish (Danio rerio) model of Parkinson's disease (PD). Background: Loss…Clinical presentations of 2 Parkin / lysosomal storage disorder heterozygotes with Parkinson’s disease
Objective: (1) To identify the genetic basis of young-onset or familial Parkinson's disease in South Africa; (2) to clinically characterize the phenotypes observed. Background: Mutations…The Faroese Parkinson’s diseases research program-Multifactorial analyses of a complex syndrome
Objective: The program aim is to assess the contribution of genes and environment influencing susceptibility, progression and the relative contribution of risk factors underlying Parkinson's…Investigation of mosaicism for copy number variants in PD brain
Objective: To investigate the presence of genetic mosaicism due to somatically acquired copy number variants (CNVs) affecting PD genes in PD brain. Background: The cause…Exome sequencing in the Czech patients with early-onset Parkinson’s disease
Objective: To evaluate prevalence of disease causing mutations and other rare variants in patients with the Early-Onset Parkinson's disease (EOPD). Background: Currently, there are four…Genetic analysis of CHCHD2 gene in Parkinson’s disease in a Taiwanese population
Objective: To evaluate the genetic mutations of CHCHD2 gene in Taiwanese Parkinson's disease patients. Background: A recent study identified a missense mutation in coiled-coil-helix-coiled-coil-helix domain–containing…Genetic risk factors of dementia and psychosis in Parkinson’s disease
Objective: We investigated the impacts of apolipoprotein E (APOE) genotype and glucocerebrosidase gene (GBA) heterozygote mutations on dementia or psychosis in Parkinson's disease (PD). Background:…Genetic Identification of early-onset parkinsonism among Norwegian patients
Objective: To investigate the genetic etiology of early-onset (AAO > 45 Years) parkinsonism. Background: Parkinsonism is a neurological syndrome characterized by resting tremor, rigidity, bradykinesia…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.