A pilot study of plasma ubiquitin carboxyl-terminal hydrolase L1 (UCH-L1) as a potential blood-based biomarker in Parkinson’s disease
Objective: To determine plasma levels of UCH-L1 in patients with PD, and to investigate the association with both genetic (leucine-rich repeat kinase 2, LRRK2 and…PTRHD1 loss-of-function mutation in an African family with parkinsonism and intellectual disability
Objective: To investigate the clinical features and identify the disease-causing gene in a black South African family affected by juvenile-onset parkinsonism and intellectual disability. Background:…Identification and analysis of differential miRNA in exosomes of dopaminergic neurons overexpressing α-synuclein
Objective: The aim of this study was to compare the miRNA expression in secreted exosomes from dopaminergic neurons overexpressing α-synuclein with healthy neurons. Background: Exosomes,…Therapeutic Drug Monitoring and Pharmacogenetic Tests as Tools in Pharmacovigilance of Anti Parkinson’s Therapy
Objective: Parkinson's disease (PD) is the second most prevalent neurodegenerative disease worldwide, affecting more than 7 million people worldwide. However, treatment outcome in many patients…Parkinson-related CHCHD2 is necessary for oligomerization of ALS/FTD-related CHCHD10
Objective: Characterization of isogenic CHCHD2, CHCHD10, and CHCHD2/10 double knockout out cell lines with assays of mitochondrial function, mitochondrial sublocalization, and homo- and heterodimerization. Background:…Molecular mechanisms of GCH1-associated Parkinson’s disease
Objective: To unravel the molecular mechanisms by which loss of GCH1 function enhances the risk of Parkinson´s disease (PD). Background: Loss-of-function mutations in GCH1 are…Daughter’s ataxia reveals father’s genetic Parkinsonism. The first reported case of Spinocerebellar ataxia -15 presenting with levodopa responsive hemi Parkinsonism
Objective: A 38 year old Australian florist of Anglo-Celtic origin described two years of difficulty using his right hand with associated sensory disturbance attributed initially…Investigating the influence of alpha-synuclein promoter (Rep1) polymorphism on cognition, disability and plasma alpha-synuclein levels in Parkinson’s disease
Objective: We sought to investigate the relationship between SNCA Rep1 allele length and cognitive, motor and disability scores in PD, as well with plasma alpha-synuclein…Levels of plasma alpha-synuclein as measured using Single Molecule Array technology is higher in Parkinson’s disease compared to controls and is not influenced by LRRK2 genotype
Objective: To investigate plasma alpha-synuclein levels in PD using ultra-sensitive protein detection technology, and to determine the association of plasma alpha-synuclein with cognitive, motor and…Pisa syndrome in Parkinson’s disease: Evidence for bilateral vestibulospinal dysfunction
Objective: To evaluate vestibular involvement in patients with Parkinson's disease and postural abnormalities. Background: Pisa syndrome (PS) is a peculiar postural complication typically occurring at…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.