Hereditary atypical parkinsonism with novel mutation of the VPS35 and FBXO7 genes
Objective: To determine the genetic background of hereditary atypical parkinsonism in an isolated region of the Czech Republic. Background: A higher prevalence of parkinsonism was…LRRK2 G2019S mutation carrier with an unusual phenotype: Progressive logopenic aphasia
Objective: To report the case of a patient carrying the G2019S mutation of the LRRK2 gene presenting with progressive logopenic aphasia and not manifesting PD…Elucidating mechanisms of endogenous disease protection resulting in reduced penetrance in PINK1 deficiency
Objective: To elucidate mechanisms of reduced penetrance in PINK1 deficiency. Background: Loss of PINK1 causes recessive early-onset Parkinson's disease (PD); however, how PINK1 deficiency results…Reduced lifespan and climbing ability observed in the overexpressing human α-synuclein without heat shock protein CNB115 in Parkinson’s disease drosophila line
Objective: To investigate the neurotoxic role of overexpressing α-synuclein without Heat Shock Protein CNB115 (HSP115) in Parkinson's disease Drosophila line. Background: Parkinson's disease (PD) is…The role of non-steroidal anti-inflammatory use in symptomatic and asymptomatic LRRK2 G2019S mutation carriers
Objective: The purpose of the current study is to determine if non-steroidal anti-inflammatory drugs (NSAIDs) reduce the risk of Parkinson's disease (PD) among LRRK2 G2019S…Elevated SNCA expression in CD45+ peripheral blood cells in patients with dementia with Lewy bodies
Objective: To examine SNCA mRNA levels in CD45+ peripheral blood cells in patients with dementia with Lewy bodies (DLB), Parkinson's disease (PD) and individuals without…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.