Large CAG expansions in Huntington disease children: the RAREST-JHD initiative
Objective: RAREST-JHD (Juvenile Huntington Disease) is an initiative to study young HD subjects’ clinics, genetics and imaging to identify markers to transfer into clinics and…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…Psychosis in Huntington’s disease
Objective: To describe the characteristics and phenomenology of psychotic symptoms in a Spanish cohort of HD patients. Background: Neuropsychiatric features are characteristic symptoms in Huntington's…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…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…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…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…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…Striatal molecular alterations in Huntington’s disease gene expansion carriers: A systematic review and meta-analysis of PET studies
Objective: To systematically examine the evidence of striatal molecular alterations in premanifest and manifest Huntington's disease gene expansion carriers (HDGECs) as measured by Positron emission…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.