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…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…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…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:…Verbatim patient-reported outcomes and trails making test B (TMT-B) performance in the REACH2HD trial
Objective: Examine the relationship between Trails Making Test B (TMT-B) performance and bothersome cognitive complaints among Huntington Disease (HD) research participants in the REACH2HD randomized-controlled…Enroll-HD: A global clinical research platform for Huntington’s disease
Objective: To provide an update on the global observational registry study of Huntington's disease (HD) included in Enroll-HD, a platform for HD clinical research. Background:…A randomized, double-blind, placebo-controlled trial of deutetrabenazine for the treatment of tardive dyskinesia (ARM-TD)
Objective: To determine the efficacy and safety of deutetrabenazine (DTB) as a treatment for tardive dyskinesia (TD). Background: There is no approved treatment for TD,…Cortico-striatal functional connectivity in the premanifest and manifest period of Huntingtons disease measured with high-field functional magnetic resonance imaging
Objective: To assess functional connectivity in the premanifest and manifest period of Huntington's disease (HD) by using functional Magnetic Resonance Imaging (fMRI) at high-field (7…
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