Paroxysmal dystonia with phenotypic variability in ECHS1 mutation twin carriers
Objective: To describe 2 monozygotic twins carrying biallelic ECHS1 mutations with different clinical phenotypes Background: ECHS1 encodes for a mitochondrial short chain enoyl-CoA hydratase, a…A clinico-genetic study based on the Innsbruck MSA Registry
Objective: To assess family history (FH) for neurodegenerative disorders in people with multiple system atrophy (MSA), compare its prevalence with that of a prospectively recruited…Resting heart rate variability in Parkinson’s disease with and without freezing of gait
Objective: The aim of the study was to investigate heart rate variability (HRV) in Parkinson’s disease (PD) patients with and without freezing of gait (FOG). Background: FOG and…Neuropsychological evaluation of cerebellar cognitive function in a series of patients with genetically confirmed CANVAS.
Objective: We aim to present the cerebellar cognitive affective evaluation and phenotypic description of a series of genetically confirmed CANVAS. Background: Cerebellar ataxia, neuropathy and…Atypical parkinsonism related to a rare variant in the PLA2G6 gene
Objective: To describe a patient with atypical parkinsonism, carrier of a rare PLA2G6 gene variant. Background: PLA2G6-associated neurodegeneration (PLAN) results from mutations in PLA2G6 gene…The Spectrum of Movement Disorders Associated With NUS1 Pathogenic Variants
Objective: To explore the phenotype of NUS1-related disorders and determine the spectrum of movement disorders in patients with NUS1 pathogenic variants. Background: A growing body…Prevalence of GBA parkinsonism in Slovak Parkinson’s disease population
Objective: Our study aimed to determine the prevalence of GBA parkinsonism in the Slovak population with Parkinson's disease (PD). Background: In recent years, there has…Movement Disorders Associated With Vitamin B12 Deficiency: A Case Series
Objective: we present a case series of movement disorders (MD) due to vitamin B12 deficiency (VB12D) and compare them with the cases reported in the…Early experience using real-world monitoring to inform Parkinson’s management
Objective: To explore the utility of remote patient monitoring, using a combination of brain sensing and objective outcome measurement, in the management of Parkinson’s disease…Characterization of Perioperative Seizures in Patients Undergoing Deep Brain Stimulation for Movement Disorders: A Single-Center Study
Objective: To characterize perioperative seizures in movement disorder patients undergoing deep brain stimulation (DBS) and their outcome. Background: Although seizure is a rare complication of…
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