Cortical grey matter atrophy in the motor system in Friedreich ataxia: The IMAGE-FRDA study
Objective: To examine the anatomical integrity of the motor cortex in Friedreich ataxia (FRDA). Background: FRDA is an inherited neurodegenerative disorder characterised by progressive gait…Evidence of striatal dopaminergic dysfunction Sydenham’s chorea in remission with (99m)Tc-TRODAT-1 SPECT
Objective: To report the findings of reduced striatal dopamine transporter (DAT) density in patients with Sydenham's chorea (SC) in remission assessed by single-photon emission computed…Juvenile chorea: Diagnostic criterias, prediction of movement disorders
Objective: To determine significant criteria of disease and to predict development of movement disorders depending on severity of disease expression and duration for its promptly…Phenotypic insights into ADCY5-associated disease
Objective: We provide detailed clinical data on seven patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.