Fragile X syndrome presenting with levodopa unresponsive parkinsonism
Objective: To describe a case of genetically confirmed Fragile X syndrome presenting with levodopa unresponsive Parkinsonism Background: Parkinsonism with or without ataxia is well recognised…Homozygous BZRAP1 mutations cause autosomal recessive dystonia
Objective: To report the identification of bi-allelic mutations in BZRAP1, encoding the active zone (AZ) protein RIM-binding protein 1 (RBP1), as a novel cause of…Gene panel testing in movement disorders: an efficient approach highlighting overlaps and heterogeneity
Objective: Our study aimed at developing a targeted sequencing approach using a customized panel of genes involved in movement disorders (MDs). Background: MDs are characterized…Prevalence of Fabry disease among patients with Parkinson’s disease
Objective: To determine the prevalence of Fabry disease (FD) among patients with Parkinson’s disease (PD). Background: Increased prevalence of PD disease has been previously reported…Impact of Offering Genetic Testing and Counseling to People with Parkinson’s Disease in a Clinical Setting
Objective: To facilitate access to Clinical Laboratory Improvement Amendments (CLIA)-approved genetic testing and improve communication of results to people with Parkinson's disease (PD) and their…Alpha-synuclein promoter (SNCA-Rep1) polymorphism is associated with non-motor symptoms in early Parkinson’s disease
Objective: We sought to investigate the relationship between SNCA Rep1 allele length and NMS in PD. Background: Associations between the alpha-synuclein gene (SNCA) promoter region…Detection of genetic modifiers in PRKN
Objective: In this study, we investigate the Hypothesis 1 using Next-generation sequencing (NGS). Background: In 1998, we reported homozygous mutations of PRKN as the causative…Parkinson’s disease patients with both GBA and LRRK2 mutations are phenotypically similar to LRRK2 – a possible protective effect?
Objective: To compare the phenotype of patients with Parkinson's disease (PD) who carry dual mutation in both LRRK2 and GBA genes with patients with PD…Effect of polygenic load on striatal dopaminergic deterioration in Parkinson’s disease
Objective: To investigate the longitudinal association between PD-associated polygenic load and the striatal dopaminergic activity using 123I-N-3-fluoropropyl-2-beta-carboxymethoxy-3beta-(4-iodophenyl) nortropane (123I-FP-CIT) single photon emission computed tomography (SPECT).…Sequencing of single human nigral dopaminergic neurons for somatic copy number variants
Objective: To detect somatic DNA copy number variants (CNVs) in dopaminergic neurons isolated from human substantia nigra, using shallow whole genome sequencing (WGS). Background: Somatic…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.