The Role of the Immune System in Dystonia: Insights from HLA genotyping
Objective: To characterize the association between Human Leukocyte Antigen (HLA) alleles and dystonia. Background: Dystonia is widely recognized to have great etiologic heterogeneity. A complex…Quercetin Reduces mtDNA Release in PRKN-Deficient and Oxidatively Stressed SH-SY5Y Cells
Objective: This study investigates the role of Parkin deficiency in mitochondrial dysfunction and its contribution to mitochondrial DNA (mtDNA) release in Parkinson’s disease (PD). We…Assessing Physiotherapy’s Role in Parkinson’s Disease Functionality in India: A Case Report
Objective: To find out the Assessing Physiotherapy's Role in Parkinson’s Disease Functionality in India: A Case Report Background: This case report explores the impact of…Dystonia in Cameroon: Clinical characteristic and treatment patterns
Objective: To describe the clinical characteristics and treatment patterns of dystonia in a cohort of Cameroonian patients. Background: Dystonia is a complex and heterogeneous movement…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…Spectrum and Evolution of Movement Disorder Phenomenology in a Pediatric Powassan Encephalitis Case Series
Objective: The Powassan virus is a rare neurotropic, tick-borne arbovirus associated with meningoencephalitis. Despite the virus’s known predilection for the basal ganglia, there are no…Real-World Adverse Event Profile in Children and Adolescents With Tourette Syndrome Treated With Dopamine D2 Receptor Antagonists (D2RAs) Compared With Non-D2RAs
Objective: To further explore the safety profile of dopamine D2 receptor antagonists (D2RAs) for Tourette syndrome (TS) in a community setting. Background: D2RAs (aripiprazole/haloperidol/pimozide) are…Neuroimaging abnormalities of the striatopallidal regions in people with diabetes: A single-center retrospective study
Objective: To describe the imaging abnormalities affecting striatopallidal regions (SP; caudate, putamen, and globus pallidum) in people with diabetes mellitus (DM). Background: DM can lead…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…Expanding the Phenotypic Spectrum of CACNA1A Variants: A Single-Center Experience
Objective: This study aims to describe pediatric patients with CACNA1A variants, detailing the clinical phenotype, with emphasis on the movement phenomenologies, genetic variants, electrophysiological and…
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