ABSTRACT
The fear and stigma associated with Huntington’s disease (HD) poses an additional burden to patients and their wider family circle when faced with the spectre of this monogenetic disease that has an inevitably fatal prognosis. A diagnosis of HD is based on neurological presentation, and is confirmed after a positive genetic test for the presence of the cytosine-adenine-guanine expansion in the huntingtin gene. This occurs in the context of a family history of HD, and also after excluding other possible causes. Within the premanifest phase, a further distinction can be drawn using more sensitive ways of examining motoric and cognitive facets of behaviour. The advent of genetic testing – such as Predict-HD and Track-HD – and cohorts of premanifest individuals who are amenable to neuroimaging research and more detailed behavioural studies, has shown that a transitory prodromal period exists before manifest disease can be detected.
