Huntington 's Disease, Symptoms, Etiology, Diagnosis, And Diagnosis

1560 Words7 Pages
Huntington’s disease affects 30,000 Americans and has 200,000 more Americans at risk to contract the disease. Huntington’s is now one of the most common brain disorders to be inherited. This paper will discuss and educate about the disease, pathology, signs and symptoms, etiology, prevalence, diagnostic studies, treatments, and the prognosis of Huntington’s disease.
Huntington’s disease (or Huntington’s chorea) is a hereditary degenerative disease that affects the cerebral cortex and basal ganglia. It is a progressive brain disease that targets the ability to move, loss of the ability to think, and emotional problems. The most common form of Huntington’s is adult onset, appearing in the thirties or forties. As the disease advances,
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Juvenile Huntington’s tends to have a longer time-span rather than adult-onset that predicts only 15-20 years. The pathology of Huntington’s is a progressive, fatal, neurodegenerative disorder that is the result of an inherited autosomal dominant trait. Huntington’s is caused by an expanded huntingtin (HTT) gene that is located in the arm of chromosome 4, that encodes an abnormally long polyglutamine repeat protein. This mutation that was found about 20 years ago, we still do not have further knowledge on the mechanism in which the abnormally long polyglutamine repeat in the HTT protein worsens the nerve cells in specific brain region. Researchers find it challenging since the HTT protein prevails in all parts of the brain. Though, understanding the genetics of HTT helped investigators develop animal and cellular models to gain a closer look at the pathogenesis of Huntington’s. This investigation has led to the knowledge that mutated HTT is toxic to striated neurons, and that is related to some of the hundred proteins that networks with HTT. Though, as much of a help as animal and cellular models are, it will still not be sufficient enough to reveal an effective treatment. The conclusion from the animal and cellular models is that they need to be validated by examining and running tests on human autopsy tissues from prior Huntington’s patients, as well as controlled subjects. Huntington’s can cause movement, psychiatric disorders with a wide range of
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