A Swedish family with Paroxysmal Kinesigenic Dyskinesia due to p.Arg217Profs*8 truncation in the proline-rich transmembrane protein 2 gene
Objective: To describe the first Swedish pedigree that fits both clinical criteria for PKD and genetic confirmation for the p.Arg217Profs*8 in the PRRT2 gene. Background: Paroxysmal Kinesigenic…The Huntington’s Disease Health Index Study (HD-HI)
Objective: To identify the symptomatic domains with the greatest impact on quality-of-life for those living with Huntington’s Disease (HD) through patient and caregiver interviews. Background:…Implementation and Validation of a Biometric Solution for Remote Monitoring of Motor Symptoms in Patients with Huntington Disease in a Phase II Clinical Trial
Objective: To implement and validate quantification of motor dysfunction in a Huntington disease (HD) clinical trial using machine learning algorithmic analysis derived from biometric monitoring…Evaluation of serum sestrin protein in Parkinson’s disease: a plausible diagnostic marker
Objective: In this study, we evaluated the concentrations of sesn1 and sesn2 in the serum of 50 PD patients and 60 elderly controls. Aging is…Impaired stress-induced mitophagy in parkinsonian LRRK2(R1441G) knockin mutant mice
Objective: 1. Morphological changes and accumulation of ubiquitinated mitochondria in the striatum of aged leucine-rich-repeat kinase 2 (LRRK2)R1441G knockin mutant mice (Liu et al., 2014,…Extracellular alpha-synuclein internalizes into cells by hijacking endocytic trafficking of dopamine transporter
Objective: The main purposes of this study were to: 1) investigate the possible effect of extracellular alpha-synuclein (aSYN) on the endocytic rate of dopamine transporter…Citrus extract A protects dopaminergic neuron by modulating mitochondrial respiration and reactive oxygen species
Objective: This study aims to validate the protective effect of citrus extract A (CEA) against loss of dopamine neurons in PD by dual targeting of…Dynamic stability during turning in people with Parkinson’s disease
Objective: The goal of this study is to determine the contributions of dyskinesia to abnormal turning mechanisms. Background: The ability to turn safely while…Antibody binding differences in alpha-synuclein from Parkinson’s disease and multiple system atrophy
Objective: Determine whether alpha-synuclein derived from Parkinson's disease (PD) and multiple system atrophy (MSA) brains has different conformations as defined by biochemical and antibody-based approaches. Background: There…Optimization of Synucleinopathy and Nigrostriatal Degeneration Induced by Injection of Alpha-Synuclein Preformed Fibrils into Rat Striatum
Objective: Optimization of the surgical parameters (intrastriatal placement and concentration of alpha-synuclein preformed fibrils; α-syn PFFs) to increase the magnitude of nigrostriatal α-syn pathology and…
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