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…Gene Expression Quantification to Assess Frataxin Replacement Therapies in Friedreich’s Ataxia
Objective: To identify genetic disease and efficacy markers for Friedreich’s ataxia (FRDA) Background: FRDA is a genetic disease caused by decreased expression of the mitochondrial…Transcutaneous auricular vagal nerve stimulation has frequency depended propensity to improve gait in Parkinson’s disease – a pilot study
Objective: We used wearable inertion motion sensors (WMS) to compare the acute effects of transcutaneous auricular vagal stimulation (taVNS) at 100Hz (taVNS100), 25Hz (taVNS25), and…Dopa-responsive Combined Dystonia Due to ATP1A3 Gene Variant
Objective: To describe a remarkable case of a patient with an atypical ATP1A3 phenotype with levodopa responsiveness, expanding our understanding of this gene mutation. Background: The ATP1A3-spectrum disorders…Amantadine Is Effective Long-term in Parkinson’s Disease
Objective: This study aimed to investigate the long-term effectiveness of amantadine in patients with PD. Background: Amantadine has been used in the symptomatic treatment of…Movement Disorders in Hereditary Spastic Paraplegia (HSP): A Systematic Review and Individual Participant Data Meta-Analysis
Objective: To investigate genotype-phenotype associations in hereditary spastic paraplegia (HSP) with a focus on movement disorders. Background: HSP is a rare genetically-driven disorder associated with…Reversible secondary parkinsonism attributed to metformin-induced lactic acidosis
Objective: We describe the case of a 59-year-old man who was evaluated for abnormal imaging and subacute parkinsonism. Background: Secondary parkinsonism can be caused by…
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