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…ADCY5 screening in paediatric-onset hyperkinetic movement disorders: Report of three new Italian families
Objective: To report three new cases with pathogenic ADCY5 mutations and describe their clinical phenotype. Background: ADCY5 is a recently identified gene responsible for a…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…Clinical course and treatment of 6 children with GNAO1 mutations causing a severe, life-threatening chorea
Objective: We describe the clinical course of 6 patients with de novo GNAO1 mutations with severe chorea, developmental delay and hypotonia, but the absence of…Relative hypoglycemia induces acute chorea followed by chronic parkinsonism in a diabetic patient on hemodialysis: A case with sequential clinico-radiological correlate
Objective: To present a sequential clinico-radiological study of a diabetic patient on hemodialysis who developed acute chorea followed by chronic parkinsonism. Background: Hyperglycemic chorea is…Cognitive impairment in Huntington’s disease
Objective: The present study was done to assess cognitive impairment in HD patients using a neuropsychological battery and to correlate with clinical severity and CAG…The assessment of quality of life in patients with early and moderately advanced Huntington disease
Objective: The aim of the study was to determine if available quality of life related scales are useful to detect the deterioration of quality of…Chorea – Ballism drug induced in replacement treatment with thyroid hormones – Case presentation
Objective: We present the case of a 56 years-old female patient that presented chorea movements after the initiation of replacement treatment with thyroid hormones. Background:…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.