Tractography study of individuals with mutation for Huntington’s disease in symptomatic and pre-symptomatic phases
Objective: Identify the involvement of white matter tracts in HD, using this technique and, thus, evaluate it as a potential biomarker for the disease. Background:…Clinical presentation and genetic characteristics of Huntingtons disease in Croatia: Thirty years of experience
Objective: To report our experience over 30 years with patients with Huntington's disease disease (HD) in Croatia and to assess the presence of oxidative stress…How do we make mistakes diagnosing movement disorders?
Objective: Analyze diagnostic errors in a Movement Disorder Section (MDS) in a public hospital in Buenos Aires, Argentina. Background: Abnormal movements are a common complaint…De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions
Objective: To identify the underlying genetic abnormality in three sporadic unrelated cases presenting with chorea and bilateral striatal abnormalities on cerebral MRI. Background: Chorea is…Progression of motor subtypes in Huntington’s disease: A six-year follow-up
Objective: To investigate the course of motor symptoms in Huntington's disease (HD) and their relationship with cognitive- and general functioning over time. Background: The motor…Demographic and phenotypic comparison of Huntington’s disease in Europe and North America: Data from REGISTRY and COHORT, two prospective observational cohort studies
Objective: We tested the assumption that the demographic and clinical spectrum of Huntington's disease (HD) is fairly similar irrespective of the geographical region of origin…Efficacy and safety of tetrabenazine in hyperkinetic movements disorders- An observational study
Objective: To assess the efficacy and side-effects of TBZ in Huntington disease (HD), vascular chorea, tics, dystonia, oromandibular dyskinesia and other tardive syndromes (TS). Background:…Alternating hemiplegia of childhood (AHC) as a new presentation of adenylate cyclase 5 (ADCY5)-mutation-associated disease
Objective: To expand and determine the clinical spectrum associated with mutations in the Adenylate Cyclase 5 gene (ADCY5). Background: Recently, mutations in the ADCY5 gene…Abnormal intrinsic brain activity reveals neural correlates of impaired cognitive function in early stage of Huntington’s disease (HD): A resting-state fMRI study
Objective: To better understand the mechanism underlying cognitive impairment in HD. Background: Cognitive impairment can precede the motor symptoms and deteriorates over time in HD…Maintenance of balance function in patients with HD treated with deutetrabenazine, as measured by Berg balance test (BBT) in First-HD
Objective: To assess the effect of deutetrabenazine treatment on balance using the BBT in patients with HD in First-HD. Background: Patients with HD have disrupted…
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