Novel bi-allelic variants in FBXO7 in a family with young-onset typical Parkinson’s disease
Objective: To describe the case of two brothers affected by typical young-onset Parkinson’s disease (PD), carrying novel compound heterozygous variants in FBXO7. Background: Bi-allelic mutations…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…A Week in the Life with Parkinson’s Disease: A Holistic Overview from Four Digital Technologies
Objective: To showcase a day in the life of a person with Parkinson’s disease (PD) using four multimodal digital technologies. Background: Assessments of PD are…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…
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