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…Clinical and behavioral features in carriers of intermediate length alleles of HTT gene. A case series of Mexican population
Objective: To describe clinical manifestations in carriers of intermediate alleles (IAs) of CAG trinucleotides in HTT gene of Mexican population. Background: Huntington's disease (HD) is…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…