Characterization of the pathogenic α-Synuclein variant p.V15A in Parkinson´s disease
Objective: To investigate functional alterations of the p.V15A variant in alpha-Synuclein (α-Syn) in Parkinson's disease (PD). Background: PD is marked by the loss of dopaminergic…Overlapping Pathogenetic Findings in Developmental Coordination Disorder (DCD), Ataxia, Dystonia and Myoclonus: is DCD part of a Movement Disorder Spectrum?
Objective: To explore the underlying pathogenetic mechanisms of Developmental Coordination Disorder (DCD) and compare these with findings in ataxia, dystonia and myoclonus. Background: DCD is…Impact of endpoint selection on sample size calculations for disease-modifying clinical trials in Parkinson’s disease patients with GBA1 mutations
Objective: To assess clinical trial sample size estimations under variable simulated scenarios for Parkinson’s disease (PD) patients with mutations in the β-glucocerebrosidade gene (GBA1). Background:…Imaging the noradrenergic system in Parkinson’s disease: A [11C]Yohimbine PET and neuromelanin MRI study
Objective: To assess two aspects of the noradrenergic system using multimodal in vivo imaging in a sample of Parkinson’s disease (PD) patients and healthy controls…Impact of istradefylline on the onset of dyskinesia in Parkinson’s Disease patients with wearing off: a randomized controlled study (ODYSSEI)
Objective: To determine the effect of long-term treatment with istradefylline (IST) on the time to onset of dyskinesia in Parkinson’s disease (PD) patients with wearing-off…Differential Rab10 & Rab8A phosphorylation by LRRK2 variants G2019S & I1371V manifests differences in membrane fluidity & pathogenicity.
Objective: To evaluate the difference in substrate (Rab8A & Rab10) phosphorylation by LRRK2 variants G2019S & I1371V on membrane fluidity & pathogenicity. Background: LRRK2 is…Characteristics of Pain in Parkinson’s Disease with Arabic translation and validation of King’s Parkinson’s Disease Pain Scale
Objective: To translate and validate the King’s Parkinson’s Disease Pain Scale (KPPS) into Arabic and to correlate pain among PD patients with motor and non-motor…Long-term effects of a mobile technology-based brisk walking program on Parkinsonian symptoms in Parkinson’s disease – a randomized controlled trial
Objective: To evaluate the effectiveness of a 6-month mobile technology-based brisk walking program on motor and non-motor symptoms and self-perceived ability in people with Parkinson’s…Efficacy and safety of clonidine for the treatment of impulse control disorder in Parkinson’s disease: a multicentre, parallel, randomised, double blind, phase 2b clinical trial
Objective: We aimed to assess whether clonidine, a specific α2-adrenergic receptor agonist, would improve impulse controls disorders (ICDs). Background: ICDs are frequently encountered in Parkinson’s…Voice- tremor in a patient with positive VPS 16 nonsense mutation: Expanding the phenotype
Objective: Reporting a case of voice-tremor in a patient with heterozygous non-sense variation in exon 16 of VPS 16 gene Background: Dystonia-30 is caused by…
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