2016
DOI: 10.1136/jnnp-2016-314597.223
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J11 Investigating phenocopies in a cohort of south african patients with a huntington’s disease-like phenotype

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

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