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.…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…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…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.