Huntington disease: from premanifest to diagnosis and early care

Abstract

Huntington disease (HD) has a prolonged premanifest phase. Detailed premanifest HD studies followed identification of the causal CAG repeat expansion in the Huntingtin gene in 1993 that allowed genetic testing. A better understanding of the years before clinical diagnosis and variation in disease presentations resulted. Information from these premanifest studies and new biomarkers may enable a wider definition of HD, earlier diagnosis and care, as well as better measures of progression in clinical trials.