ABSTRACT
Huntington’s Disease (HD) is a fatal progressive neurodegenerative disorder that was named after Dr. George Huntington, a U.S. physician who first described the symptoms and hereditary characteristics of HD in 1872. HD symptoms usually occur at middle age, however, there is a juvenile form of the disease with onset as early as 2 years of age (Nance and Myers, 2001). Early symptoms of HD include involuntary twitching and clumsiness, and emotional and cognitive disturbances. As the disease advances, concentration and short-term memory diminish and involuntary movements of the head, trunk, and limbs increase. Walking, speaking, and swallowing abilities worsen. Affected individuals are rapidly disabled by early functional decline, require care and supervision, and die within 15-25 years from onset because of complications such as choking or heart failure. There is presently no therapy to delay the onset or slow progression of the disease, and the current medical treatments primarily focus on alleviating symptoms and optimizing function. In this chapter, we will review the neuropathology and genetics of HD, and then briefly describe how protein misfolding has been thought to play a role in its neuropathogenesis and has guided the development of therapeutic approaches.
