Technology use habits and preferences of a population with Parkinson’s disease and their care partners
Objective: To ascertain the current utilization of Internet, app-based and wearable technologies among individuals with Parkinson's disease. Background: The Davis Phinney Foundation for Parkinson's disseminated…Spatial accuracy and reliability of the Microsoft Kinect V2 in the assessment of joint movement in comparison to marker-based motion capture (Vicon)
Objective: Evaluation of Microsoft Kinect V2 against standard motion capture. Background: Augmentation of clinical Motor testing with instrumental assessment has been proposed to increase objectivity.…Evaluation of kinematic parameters of potential clinical use extracted from Microsoft Kinect V2 motor assessments
Objective: To evaluate movement parameters for clinical use extracted from Microsoft Kinect V2 joints. Background: Instrumental motor assessment has been proposed to increase objectivity but…Quantitative assessment of advanced therapies in Parkinson’s disease using the Parkinson kinetigraph (PKG)
Objective: Our aim was to establish whether objective measurements using the Parkinson's Kinetigraph can detect differences between patients undergoing different advanced therapy with either deep…Efficacy and safety of a L-dopa delivery and monitoring medical device
Objective: The objective of this study is to evaluate algorithms in a medical device for l-dopa delivery and monitoring. This wearable medical device will measure…Novel THAP1 missense mutation leading to focal and segmental dystonia
Objective: We have identified a novel heterozygous missense mutation in THAP1 (DYT6 locus) in a patient suffering from craniocervical and upper limb dystonia. We describe…Myoclonus Dystonia: A report of two rare mutations
Objective: To present the results of genetic analysis of three patients who presented to our clinic with Myoclonus Dystonia. Background: Myoclonus Dystonia (MD) is a…De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions
Objective: To identify the underlying genetic abnormality in three sporadic unrelated cases presenting with chorea and bilateral striatal abnormalities on cerebral MRI. Background: Chorea is…Development of the UK hereditary spastic paraplegia registry: Analysis of SPAST patients reveals high rate of psychiatric comorbidities
Objective: To (1) describe the genetic variability, phenotype and epidemiology of spastin mutation in HSP patients (2) create the UK HSP register with a focus…Computational analysis of expression profiling data in a neuronal model of X-linked dystonia-parkinsonism
Objective: To identify differentially expressed genes and enriched gene sets in a neuronal model of X-linked dystonia-parkinsonism (XDP, DYT3). Background: The putative dysfunctional gene in…