Oxidative stress in Progressive Supranuclear Palsy
Objective: The goal of the study is to evaluate the significance of oxidative stress in the examination and pathophysiology of Progressive Supranuclear Palsy (PSP). Additionally,…Exploring Cardiac Autonomic Dysfunction in Synucleinopathies with Parkinsonism Across Awake-Sleep Stages
Objective: To explore the differences in heart rate variability (HRV) across awake-sleep stages between patients with synucleinopathies and elderly controls without parkinsonism Background: A complex…Safety, Tolerability and Pharmacokinetics of a Novel Oral OGA Inhibitor (FNP-223) First-in-Human Phase 1 Study
Objective: To evaluate the safety, tolerability, and pharmacokinetics of FNP-223 (formerly ASN90) in healthy volunteers (HV). Background: Proteinopathies remain largely untreatable and novel therapies are…GNAI1-Associated Childhood-Onset Hyperkinetic Movement Disorder: A Case Report
Objective: To describe the clinical presentation, diagnostic evaluation, and genetic findings in a 7-year-old male with a hyperkinetic movement disorder associated with a novel GNAI1…The Severity and Burden of Movement Disorder Symptomology in Patients with Cerebrotendinous Xanthomatosis: A US-based Survey
Objective: To provide information about the presentation, burden, and severity of movement disorder (MD) symptoms in cerebrotendinous xanthomatosis (CTX) from the patient perspective. Background: CTX…Using Zebrafish Model to Investigate Complex Hereditary Spastic Paraplegia Caused by EPT1 Variants
Objective: To generate disease-representative zebrafish models using CRISPR-Cas9 technique.To characterise the zebrafish models by performing phenotypic characterization, neurobiological experiments, lipidomic and RNASeq studies.To test targeted…The Impact of Myofascial Release using Dry Needling on Gait in Parkinson’s Disease: A Pilot Study
Objective: The aim of this study was to analyze the length of the step during one cycle heel-to-heel and the time wasted to complete this…“Parkinson Positivos”: A Collaborative Effort to Educate and Empower the Spanish-speaking community.
Objective: To create a culturally sensitive educational resource that (1) centers the voices of the Spanish-speaking community, (2) dispels misconceptions and breaks down barriers to…Three Siblings with Progressive Cerebellar Ataxia Associated with a Rare PRKCG Variant
Objective: We report three siblings with late-onset, slowly progressive cerebellar ataxia associated with a c.475G>A (p.Gly159Arg) missense variant in the PRKCG gene. Background: Spinocerebellar ataxia type 14…Adult-onset ataxia with oculomotor apraxia type 4 with severe hypoalbuminemia, generalized edema and obesity
Objective: To report a 45-years-old Swedish man born to non-consanguineous parents affected by an adult-onset syndrome that included insidious pain at onset, hypoalbuminemia, edema, severe…
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