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…The clinical features, neuroimagings and outcomes of diabetic striatopathy: a retrospective study at tertiary hospital in Vietnam
Objective: This study aims to analyze the clinical features, neuroimaging findings, and outcomes of diabetic striatopathy among Vietnamese patients. Background: Diabetic striatopathy (DS) is a…Choreiform Movements Secondary to Sarcoidosis Without Central Nervous System Granulomatosis
Objective: To share our experience managing a patient who presented with choreiform movements found to be secondary to sarcoidosis without CNS Granulomatosis. Background: Sarcoidosis is…Ektacytometry in Neuroacanthocytosis
Objective: Here we report two patients with genetically confirmed neuroacanthocytosis (NA) and expand the role of ektacytometry for the assessment of acanthocytes. Background: The main…Volatile solvent abuse and Cerebellar ataxia: A case series
Objective: Delineation of clinical and radiological features of cerebellar ataxia from volatile solvent abuse. Background: Volatile solvents like glues, correction fluid, acrylic paints, varnishes, lacquers…CAPRIN1 defect: a new severe neurodegenerative disorder with childhood dementia, myoclonus-ataxia, and sensorimotor neuropathy
Objective: To present the case of a patient with a severe neurodegenerative disorder with onset in pediatric age carrying a pathogenic variant in CAPRIN1 gene…Mixed Cerebellar Ataxia in a Patient with a Novel FAT2 Gene Variant Associated with SCA45
Objective: We describe a patient with late-onset ataxia, cognitive impairment, and parkinsonism with a novel missense variant in FAT2, a gene implicated in spinocerebellar ataxia…A Scoping Review of Epidural Spinal Cord Stimulation in the Treatment of Multiple Movement Disorder Symptoms
Objective: Conduct a scoping review to examine the effects of epidural spinal cord stimulation on multiple clinical symptoms of movement disorders. Background: Prior research has…Alterations in neural processes of cognitive control in asymptomatic heterozygous mutation carriers in the Parkin gene
Objective: Investigating heterozygous Parkin gene (PRKN) mutation carriers to evaluate the potential association of this mutation with an alteration of cognitive control processes. Background: Recessively…Combining Carbidopa/levodopa Extended-release Capsules and Immediate-release Tablets – Crucial Factors of This Economical Prescription
Objective: We introduced a new way of prescribing carbidopa/levodopa extended-release (ER) capsule – combining use of immediate-release (IR) tablets. This retrospective clinical study was designed…
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