Subacute Combined Degeneration in Wilson Disease: Treatment Dilemma
Objective: To report a Wilson disease patient (WD) with subacute combined degeneration (SCD) from zinc and D-penicillamine. Background: Copper-lowering treatments are main strategies to reduce…KMT2B-Related Dystonia And DBS: Tertiary Center Experience
Objective: This study aims to evaluate the functional outcomes and effectiveness of deep brain stimulation (DBS) in patients with genetic dystonia secondary to a KMT2B …Chronic striatal cholinergic agonist infusion as a model of dystonia
Objective: The objectives of this work were to create a primate model of dystonia based on striatal infusion of a muscarinic agonist (oxotremorin), and to…Beyond the Surface: Electromyography in Cervical Dystonia
Objective: To evaluate the presence of co-contractions and overflow in cervical dystonia (CD) patients and appraise the applicability of intermuscular coherence as an objective biomarker…Machine Learning-Driven Exploration of Epigenetic Patterns in Huntington’s Disease: Understanding Histone Modification Dynamics
Objective: This study explores histone modifications, an underexplored aspect of HD's epigenetics, aiming to uncover markers influencing disease severity and onset for potential therapeutic targets.…Measuring Cortisol Levels in Persons with Huntington’s Disease
Objective: To assess subjective and objective measures of emotional stress via standardized scales and a physiological measure (salivary cortisol) in persons with Huntington’s Disease (HD)…Mechanism Study of Familial Cortical Myoclonic Tremor with Epilepsy Type 1 Caused by Pentanucleotide Repeat Expansion in the SAMD12 Gene
Objective: This study aims to explore the pathogenic mechanisms of familial cortical myoclonic tremor with epilepsy (FCMTE) using various cellular models, from the perspectives of…Identifying and Managing Spasticity in Neurological Shoulder Dysfunction
Objective: To understand this discrepancy between diagnosis and treatment of spasticity in neurological shoulder dysfunction, we formed an expert panel to establish consensus and provide…Gaps in Diagnosing and Treating Tic Disorders in Latin America: A Survey of Healthcare Workers
Objective: The objective of this study was to investigate the knowledge, treatment, and diagnosis pathways followed for Tic Disorders across Latin America. Background: Tic disorders…Tractography-guided versus Clinical Determination of the Most Effective Contact for Tremor Control in Patients with Deep Brain Stimulation – A Clinical Trial
Objective: To prospectively test the hypothesis whether imaging-guided contact selection based on standardized individual tractography of the dentato-rubro-thalamic tract (DRTT) is non-inferior to clinical contact…
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