Chorea-acanthocytosis: The first described clinical case in Ukraine
Objective: The abstract provides a description of the clinical case of chorea-acanthocytosis diagnosed at the Department of Neurology No. 1 of the Kyiv Regional Clinical…Phenomenology and therapeutic strategies in a series of patients with chorea-acanthocytosis
Objective: Description of the epidemiology, phenotype and ancillary test results in a series of patients with chorea-acanthocytosis (ChAc). Analysis of the therapeutic strategies and functional…Persistent hemichorea and caudate atrophy in untreated diabetic striatopathy
Objective: To describe the natural history and imaging findings in a case of untreated diabetic striatopathy. Background: Diabetic striatopathy (DS) is a rare movement disorder…CSF inflammatory and cell death biomarkers in Huntington’s disease – An exploratory cross-sectional study
Objective: This exploratory work intended to study general inflammatory cytokines, microglial activation markers, and neuronal cell death markers in the cerebrospinal fluid (CSF) of HD…Huntington disease phenocopies or misdiagnosis: A black South African cohort
Objective: To investigate the occurrence of phenocopy mutations in a cohort of black South African individuals referred to the National Health Laboratory Service (NHLS) for…Loss of extra-striatal phosphodiesterase 10A expression in early premanifest Huntington’s disease gene carriers
Objective: Using positron emission tomography (PET) with [11C]IMA107, we investigated the in vivo expression of PDE10A in extra-striatal regions in a cohort of 12 early…Communication and language skills in Huntington’s disease
Objective: To characterize the language and communication abilities of HD patients as reflected in tasks involving naming, verbal fluency, working memory and pragmatics. Background: Huntington's…Magnetic resonance imaging and pyramidal impairment in Huntington disease
Objective: To identify structural involvement of the corticospinal pathway in Huntington disease (HD) with clinical upper motor neuron signs using diffusion tensor imaging (DTI). Background:…CAG repeat length and weight loss in pre-manifest Huntington’s disease
Objective: To explore if CAG repeat length is a predictor of weight loss in pre-manifest Huntington's disease. Background: Weight loss is a hallmark finding in…A randomized double-blind placebo- and positive-controlled crossover study to evaluate the effects of single doses of SD-809 (deutetrabenazine) and tetrabenazine on the corrected QT interval
Objective: Evaluate the pharmacokinetics and pharmacodynamics (QTc) of SD-809 (deutetrabenazine) and tetrabenazine. Background: SD-809 is a VMAT-2 inhibitor in clinical development for treatment of hyperkinetic…