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Summary Of Huntington's Disease Essay

1296 words - 6 pages

Disease Summary
Huntington’s disease is of great concern because it is a genetic disease that affects many people worldwide. Huntington’s is described by Wider and Luthi-Carter (2006) as the most prevalent inherited neurodegenerative disorder in humans, affecting between two to eight per 100,000 inhabitants of Western countries. Huntington’s also has a slow onset with an average age of onset around 40 (Wider & Luthi-Carter, 2006). Wider and Luthi-Carter (2006) note the cause of this disease to be a mutation in the huntingtin gene, which can be characterized by distinct symptoms. Chorea, from the Greek “to dance”, is the main distinguishing feature of this mutation and is described by Wider and Luthi-Carter (2006) as rapid involuntary movements that manifest as eyelid elevation, head bobbing, facial grimacing, and jerking of the limbs. Chorea is also noticeable in the way one walks, making an individual move in a zigzag pattern and appear to be thrown off balance by involuntary movements (Wider & Luthi-Carter, 2006). The disease duration is between ten and thirty years and is often first noticed in the early stages by symptoms including attention disorders, personality changes, and alterations in motor control (Wider & Luthi-Carter, 2006).
Though Huntington’s is caused by a mutation, research is still being focused on its pathogenesis to gain a better understanding of the disease. Research done by Wider and Luthi-Carter (2006) shows that the main pathological causes of Huntington’s are atrophy and gliosis of the caudate nucleus and the putamen, which become noticeable and statistically significant around ten years prior to disease onset. The research completed by Wider and Luthi-Carter (2006), also shows a significant loss of GABA-producing neurons and a reduction in glucose uptake in the caudate nucleus and putamen.
The treatment for severe chorea and other debilitating effects has typically been anti-psychotics, such as haloperidol, but Huntington’s has proved to be difficult to treat because it causes a variety of issues in an individual (Wider & Luthi-Carter, 2006). For example, anti-dopaminergic tetrabenazine has been found to be very effective in the treatment of chorea; however, its usage is limited because its blocking effects on dopamine receptors would worsen other effects of Huntington’s, such as Parkinson’s and depression (Wider & Luthi-Carter, 2006). Other forms of treatment, including surgeries, the use of histone deacetylase inhibitors, which may be able to reverse the mutation in the gene, and the use of minocycline, a tetracycline antibiotic, have all been considered as effective options, but are still in the early stages of research (Wider and Luthi-Carter, 2006).
Using human and animal models of Huntington’s disease are beneficial in gaining understanding of its biological pathway and, ultimately, in finding the most effective treatment options available to individuals and families who suffer from the effects of the...

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