Novel compound heterozygous mutations in the TSFM gene causes childhood-onset chorea
Objective: To report the case of a young boy suffering from a severe hyperkinetic movement disorder caused by mutations in the recently described TSFM gene.…A retrospective analysis of clinical forms and age of onset of biallelic Huntington disease patients from an Argentinean Center
Objective: To compare AO and clinical presentation in Argentinean bi-allelic (BHD) patients, ie one mutated allele and one either intermediate (IA, 27-35 CAG repeats) or…Juvenile Huntington Disease (JHD) subjects’ stratification according to the mutation-length
Objective: To identify clinical and genetic markers to differ JHD from adult Huntington disease (HD) and to monitor JHD progression Background: JHD is a HD…A modified model for prediction of Huntington disease age of onset based on length of CAG repeat expansion
Objective: We aimed to search for a possibility to modify Langbehn et al. model (LanM) for prediction of Huntington disease (HD) age of onset based on length of CAG…Myths and Misconceptions Regarding Huntington’s Disease in Peru
Objective: To explore the understanding and conceptualization of Huntington’s disease (HD) genetics and pathology among HD patients and family caregivers in Peru. Background: HD is…Dynamic prediction of motor diagnosis in Huntington’s disease using a joint modeling approach
Objective: Compare various clinical and biomarker trajectories for tracking Huntington's disease (HD) progression and predicting motor conversion. Background: Huntington’s disease (HD) is a fatal neurodegenerative disease…Factors Influencing Completion of Predictive Testing for Huntington’s Disease (HD)
Objective: To determine if the new simplified testing protocol led to an increase in completion rate of predictive testing for HD, and to study some…Loss of PDE10A expression in patients with PDE10A and ADYC5 mutations
Objective: To assess phosphodiesterase 10A (PDE10A) expression in vivo, using [11C]IMA107 PET in patients with PDE10A and adenylate cyclase 5 (ADYC5) mutations. Background: Cyclic adenosine…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…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.