Abstract:BackgroundHuntington’s disease (HD) is caused by an unstable expanded trinucleotide (CAG) repeat in the huntingtin (HTT) gene. Presentation involves a clinical triad of symptoms: behavioural problems, movement disorder and cognitive decline. Elsewhere, between 1 and 7% of individuals diagnosed do not carry the mutation and are said to have an HD phenocopy; a term used to describe any syndrome that manifests HD-like symptoms in the absence of an HTT expansion. In South Africa, direct mutation testing is perform… Show more
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.