ABSTRACT

This chapter discusses the clinical diagnosis and the potential role to be played by the combination of functional imaging and DNA studies in the management of symptomatic patients with and asymptomatic individuals at risk for Huntington’s disease (HD). The diagnosis of HD depends on establishing a positive family history and on a detailed clinical assessment. The cardinal clinical features, involuntary movements associated with cognitive impairment, are almost always present in patients with established disease. The characteristic pathologic finding in HD is widespread neuronal loss affecting mainly the caudate and putamen. The finding that metabolic changes precede structural cell loss in HD offers the hope that treatment directed appropriately at the metabolic defect might halt further cell loss and possibly restore some cells facing imminent death. Furthermore, patients with HD could be monitored for failure of the expected reduction of caudate metabolism which might provide evidence for the efficacy of a particular pharmacological intervention.