Huntington's disease

Huntington's disease (HD) is an autosomal dominant disorder involving progressive motor, cognitive and psychiatric symptoms. HD is caused by a trinucleotide (CAG) repeat expansion, encoding an extended polyglutamine tract in the huntingtin protein. While there is an inverse relationship between CAG repeat length and age of onset, there is substantial recent evidence for both genetic and environmental modifiers which modulate age of onset and rate of progression. Research utilising transgenic mouse models of HD has made great progress in understanding mechanisms of pathogenesis and gene-environment interactions, and this information has led to promising preclinical and clinical trials, however there is not yet a proven treatment or cure for this fatal disease.