Huntington's Disease

Huntington's disease (HD) is an inherited disorder involving the premature loss of neurons (Gusella, 1991, p. 125). This loss results in a variety of neurologic and psychiatric symptoms.

For several reasons, HD has been the object of much study. One is the fact that it appears to result from a fully dominant, autosomal mutation (Laird, 1990, p. 242). In addition, the disease's age of onset is unusually variable. Finally, it seems that different forms of HD depend on which parent provided the mutant gene (Laird, 1990, p. 242).

Although HD was known previously, it first received widespread attention as result of work performed by Dr. George Huntington (LaCour, 1990, p. 16). Using records kept by his father and grandfather, Dr. Huntington established HD's genetic basis.

The onset of symptoms is insidious and difficult to establish with any degree of certainty (Gusella, 1991, p. 126). A definitive diagnosis depends on a positive family history, progressive voluntary movement disorder, and psychiatric disturbance (LaCour, 1990, p. 16). The different forms of the disease vary in their severity: severity decreases with later age of onset.

HD seems to occur in all populations, but is most prevalent in Caucasians of Western European origin (Leung et al., 1992, p. 681).

Treatment consists primarily of addressing the symptoms. DopamineD2antagonists may be used to control the chorea; whereas a variety of measures may be employed ag

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ntually, motor dysfunction also leads to dysphagia and dysarthria which make communication difficult, and ultimately impossible (Gusella, 1991, p. 126). The range of onset for Huntington's disease is also very broad (Gusella, 1991, p. 126). Mean onset ages range from 35 to 42 years (LaCour, 1990, p. 21). The mean age in a New England series of 243 patients was 41 years (LaCour, 1990, p. 21). Furthermore, this age of onset may vary widely within different branches of the same family (Gusella, 1991, p. 126). The typical duration of the illness from onset to death averages about 17 years (Gusella, 1991, p. 126). Some patients have survived as long as 30 years though; these eventually succumb to a secondary complication of the disorder such as heart disease or pneumonia (Gusella, 1991, p. 126). While extremely rare, a very early onset HD form exists with symptoms appearing before the age of 10 (Clarke & Bundey, 1990, p. 180). It is more often found among the offspring of affected men than among the offspring of affected women (Clarke & Bundey, 1990, p. 180). Thus, translation of the HD gene may be modified according to its parental origin (Clarke & Bundey, 1990, p. 180). In about 3% of HD cases, symptoms appear before a

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