Huntington's disease (HD) is a hereditary neurodegenerative disorder involving slow, progressive loss of functional capacities. Motor, psychiatric, and cognitive deterioration interfere with activities of independent living, gait, speech, and, ultimately, swallowing. Each child of an affected parent has a 50% chance of inheriting the abnormal gene and developing symptoms. There is no cure; for each involved descendent, this fatal condition is inescapable. In White populations, the prevalence of HD is approximately 40 to 75 per million. Lower frequencies have been found in Finland, Japan, Black Africa, and China. There are 30,000 Americans who are symptomatic; 150,000 are at risk (Moskowitz & Marder, 2001). The disease is caused by a polyglutamate expansion found on the short arm of chromosome 4. This CAG repeat causes mutation of the protein huntingtin; the altered protein attaches to normal huntingtin, interfering with its function. (CAG refers to the sequence of nucleic acids [cytosine, adenine, guanine], on chromosome 4 that has been identified as the locus of HD. In normal individuals the repeated sequence is 26 or fewer. CAG repeat sequences numbering 27-35 is not associated HD but if paternally transmitted may lead to HD in the next generation. In individuals with 36-39 repeats, some will not develop the disease; penetrance is less than 100%. Repeat sequences of 40 or more will always result in HD if the person lives long enough.) It is hypothesized that toxic accumulation of these protein bundles ultimately kills neurons. Other proposed causes of cell death are excitotoxity, oxidative stress, impaired energy metabolism, and apoptosis. In HD, neuronal death occurs most extensively within the basal ganglia, in the neostriatum. Other affected areas include the globus pallidus, thalamus, subthalamic nuclei, substantia nigra, and cerebellum. The average age of onset is between 35 and 42 years; the juvenile form occurs in 3% of all cases, with onset before 15 years (Martin & Gusella, 1986). Diagnosis can be confirmed with a gene test. Typically, the earliest stages of the illness are characterized by subtle personality changes-irritability, anxiety, and depression-as well as cognitive problems that interfere with personal self-management. The intermediate stages of the disease usually involve behavioral difficulties and significant interference with employment capacity. In addition, slurred speech, unsteady gait, and poor coordination lead to low self-esteem and social stigmatization. Nursing home placement becomes inevitable with decreasing capacity to perform the most basic activities of daily living (dressing, feeding, toileting) and/or severe emotional imbalance. The movement disorder is multifaceted and includes: chorea (jerky movements of the extremities); athetosis (writhing); and dystonia (a disorder of muscle tone manifesting as twisting, tilting, and arching of the neck, back, and feet). …
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