Distinct phenotypic expression in a large PKAN cohort in the Dominican Republic
Objective: Analysis of a large genetically homogenous PKAN population, assessing demographics, clinical features, and rating scales to characterize observed phenotypic heterogeneity. Background: PKAN is an…Movement disorders in late-onset inborn errors of metabolism – a new diagnostic algorithm
Objective: We propose a novel diagnostic algorithm to help clinicians to diagnose inborn errors of metabolism (IEM) in adolescents and adults that present with a…Familial Creutzfeldt-Jakob disease with D178N and Met129Val
Objective: Fatal familial insomnia (FFI) and Creutzfeldt-Jakob disease (CJD) are two phenotypes that share a common point mutation at codon 178 of the prion protein…Clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) studied with whole exome sequencing (WES)
Objective: We aim to investigate the clinical and genetic features of PKD in a large cohort of patients in with WES. Background: PKD is a…Spinal Cord Stimulation for Severe Restless Leg Syndrome
Objective: Objectives: To report the use of spinal cord stimulation (SCS) in a patient with severe and refractory familial Restless Leg Syndrome (RLS). Background: RLS…Restless Leg Syndrome In Men: Examination Of Early Non-Motor Clinical Signs Of Parkinson’s Disease
Objective: Restless Legs Syndrome (RLS) is a disorder characterized by an abnormal sensation, some sort of dysesthesia, which cannot be described especially on the limbs.…Evaluation of corneal parameters in patients with idiopathic REM Sleep Behavior Disorder
Objective: To evaluate the blink rate (BR), tear function, and, corneal parameters of patients with iRBD. Background: In patients with Parkinson's disease (PD), dry eye…Predictors of Health-Related Quality of Life in Patients with Cervical Dystonia
Objective: The aim of our study was to assess the prevalence of non-motor symptoms (NMS) and to explore their association with health-related quality of life…Longitudinal digital observation of the holistic quality of the life of patients with Parkinson’s disease
Objective: The aim of this study is the development of a digital concept for a longitudinal assessment of quality of life during the various stages…Motor Training Based on Video Games Reduces Freezing of Gait Regardless of Games Combination: A Parallel, Prospective, Double-Blind, Randomized Clinical Trial
Objective: To compare the effect of motor training based on two distinct game’s combination on FOG in PPD. Background: Freezing of gait (FOG) is a…
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