Conjugal Parkinsonism
Objective: To report a case of multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) in a couple. Background: Conjugal parkinsonism denotes an entity where…A Randomized, Double-blind Phase 3 Trial of Amlenetug Versus Placebo in Patients with MSA: The MASCOT Trial
Objective: Describe the protocol for a randomized, double-blind phase 3 trial evaluating the efficacy and safety of amlenetug versus placebo in slowing clinical progression in…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…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…Novel CUX2 Mutation Identified in Patient with Clinical Paroxysmal Nonkinesigenic Dyskinesia
Objective: In this case, we present a novel mutation in the regulatory region for CUX-2 that is associated with clinical PNKD. Background: Paroxysmal nonkinesigenic dyskinesias…Stroke, Chronic Ataxia and Tremor in a Pediatric Patient with c.2137C>A Genetic Variant in CACNA1A
Objective: To describe a pediatric case of chronic non-progressive ataxia, nystagmus, kinetic tremor, refractory epilepsy, and arterial ischemic stroke (AIS) associated with a CACNA1A c.2137C>A…Balance assessment and effect of virtual reality in Hereditary Spastic Paraplegia
Objective: This study aims to investigate the balance and benefits of Vestibular Rehabilitation (VR) with virtual reality (VRi) in individuals with HSP Background: The HSP…Retrospective Analysis of our Supportive Care Clinic and Lifestyle Improvement Fitness Program
Objective: The Supportive Care Clinic and Lifestyle Improvement Fitness (LIFT) program provides multidisciplinary care and online educational resources for our parkinsonian patients. Demographics of patients…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…Preliminary Results From an Italian Multicentric Study on Inherited Synaptopathies Characterized by Movement Disorders and Epilepsy
Objective: To present the preliminary results of an Italian multicentric study on inherited synaptopathies Background: Inherited synaptopathies are rare genetic disorders characterized by complex and…
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