Case Report: An Atypical Presentation of Runner’s Dystonia
Objective: N/A Background: Runner’s dystonia (RD) is a rare adult-onset focal limb task-specific dystonia. Most predominant phenotype of RD is reported to be dystonic foot…A Qualitative Approach to Extract Diagnostic Patterns of Cognitive Impairment in Parkinson’s Disease
Objective: This study distilled patterns of patient performance recognized by clinical professionals in people with Parkinson’s disease (PD) and cognitive impairment on the Montreal Cognitive…Enhancing Usability of PRIMS: A Video-Based Automated Parkinson’s Motor Assessment Informed by User Feedback
Objective: To evaluate the usability and feasibility of an improved PRIMS, an automated video-based Parkinson’s motor assessment, based on iterative user feedback from individuals with…Action-Induced Dystonic Opisthotonus as an Atypical Presentation in Ataxia Telangiectasia
Objective: We present a rare case of Ataxia-telangiectasia (AT) characterized by intermittent action-induced dystonic opisthotonus causing frequent vomiting after meals intake [figure1]. Background: AT is…Muscle Interactions during Gait in People with Parkinson’s Disease
Objective: To study modulation and asymmetry in lower limb muscles in individuals with Parkinson’s Disease (PD), compared to healthy controls (HC). Background: Walking disorders are…40,000 Instrumented Timed-up-and-go Tests – Standardization is within Reach
Objective: Timed-up-and-go (TUG) is a standard test in neurological assessment. TUG completion time is currently the only quantitative result reported and matched against age and…Diagnostic and Treatment Delays in Normal Pressure Hydrocephalus: A Retrospective Analysis at a Tertiary Care Center
Objective: To identify and evaluate critical points of delay in the diagnosis and treatment of normal pressure hydrocephalus (NPH) at a tertiary care center. Background:…A personalized gait signature assay in Parkinson’s disease
Objective: To establish a personalized gait signature assay to inform on progression, phenotype and effects of intervention of gait abnormalities in PD. Background: Gait signatures…Clinical validity of a digital toolkit combining active and passive assessments in early Parkinson’s Disease
Objective: We evaluated clinical validity of smartphone-administered active assessments and passive measures of motor function in early Parkinson’s Disease (PD) designed for in-home remote use.…CAPOS Phenotypic Spectrum: CAPOS, CAPOS+ and CAPOS- within the p.Glu831Lys Variant of the ATP1A3 gene. Case Report and Literature Review.
Objective: To describe and compare the clinical phenotype and frequency of symptom presentation of p.Glu831Lys variant associated syndrome within the ATP1A3 gene, adding the first…
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