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…De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions
Objective: To identify the underlying genetic abnormality in three sporadic unrelated cases presenting with chorea and bilateral striatal abnormalities on cerebral MRI. Background: Chorea is…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.