An Unusual and Treatable Cause of Cerebellar Ataxia and Dystonia: Homozygous COQ4 Gene Mutation
Objective: To report a case of Coenzyme Q10 (CoQ10) deficiency due to COQ4 variants causing adult-onset ataxia and dystonic postures. Background: CoQ10 is an essential…Spastic Ataxia Associated with Congenital Myasthenia Related to the VAMP1 Gene: Report of an Affected Family in Brazil.
Objective: To describe a family with both congenital myasthenia and spastic ataxia Background: The vesicle-associated membrane protein - VAMP1 is associated with synaptic activation in…Phenotypic Aspects of Huntington’s Disease-Like 2 in Brazil and the World: Literature Review
Objective: To describe the known phenotypic profile of HDL2 patients currently described in the literature. Background: HDL2 is an autosomal dominant neurodegenerative disorder caused by…Acute Chorea in The Emergency Department Related to Systemic Lupus and Antiphospholipid Syndrome: A Case Report
Objective: To report a case of acute chorea syndrome in a young patient, secondary to Systemic Lupus Erythematosus (SLE) and Antiphospholipid Syndrome (APS). Background: Movement…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)…
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