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…Brain Target Engagement and Pharmacokinetic-Enzyme Occupancy (PK-EO) Relationship of FNP-223: A Novel Oral OGA Inhibitor for Progressive Supranuclear Palsy – Phase 1 PET Study
Objective: To determine the brain O-GlcNAcase (OGA) occupancy, following a single oral dose of FNP-223 (formerly ASN90) and to determine PK-EO relationship. Background: Preclinical evidence…Exploring the Role of Aperiodic and Periodic Spectral Activity in Guiding Deep Brain Stimulation Electrode Selection for Childhood Dystonia
Objective: To evaluate the potential of aperiodic and periodic neural activity in guiding clinical deep brain stimulation (DBS) programming for children with dystonia. Background: DBS…Microstructural Changes in the Striatum Correlate With Clinical Symptoms in Wilson Disease
Objective: To evaluate microstructural changes in the dorsal striatum and their correlation with clinical symptoms in Wilson disease (WD). Background: Advanced diffusion models, including Neurite…Development of Gene Panel by Next‐Generation Sequencing Approach for Diagnosis of Paroxysmal Movement Disorders
Objective: To develop a targeted gene panel for Paroxysmal Movement Disorders using Whole Exome Sequencing. Background: Paroxysmal movement disorders (PMDs) are a neurological disorder, characterized…The Impact of Non-Invasive Brain Stimulation Timing on Physiotherapy Outcomes for Parkinson’s Disease a Systematic Review with Dose-Response Analysis
Objective: To determine the best timing for non-invasive brain stimulation (NIBS) intervention to enhance physiotherapy-induced motor recovery in patients with Parkinson's disease (PwPD), and to…Community Awareness of Parkinson’s Disease as a Driver of Stigma in Kilifi, Kenya
Objective: To gain a holistic understanding of stigma surrounding Parkinson’s disease in Kenya from the perspective of those who are stigmatised, and those who might…A 37 years-old man with Epilepsy and Progressive Autoimmune Ataxia
Objective: Describe a young patient with medial past history of Epilepsy who started with progressive symptoms of imbalance, vertigo, nausea, oscillopsy and recurrence of seizures.…The Unlikely Treatable A Case of Ataxia
Objective: To present the first reported Colombian case in a patient presenting COQ8A-ataxia with bilateral palpebral ptosis, who had a favorable response to CoQ10 supplementation…Frequency and Phenotype of GAA-FGF14 Disease in Bilateral Vestibulopathy Syndromes: Insights from Repeat Expansion Carriers, Including a Dual Diagnosis with RFC1-Related CANVAS
Objective: To study the frequency and phenotype of GAA-FGF14 expansions in a large cohort of patients with bilateral vestibulopathy (BVP) syndromes. Background: Intronic GAA repeat expansions in FGF14 cause spinocerebellar ataxia…
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