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…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…