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Wednesday, January 22, 2020

Huntington’s Disease Essay -- Health Medical Medicine Essays

Huntington’s Disease Huntington’s disease is a fatal inherited disorder characterized by slow gradual personality changes, dementia, and choreiform movements. It is a progressive disease; its average onset is thirty to forty years of age, and the duration of the disease is about ten to twenty years with death as the outcome. It is known that for Huntington’s disease, there is a degeneration of cholinergic and GABAergic neurons in the basal ganglia and the cerebral cortex. The etiology of nerve cell death in Huntington’s disease is unknown. However, there is a recent hypothesis implicating defects in mitochondrial energy metabolism as the pathology of Huntington’s disease. Huntington’s disease is an autosomal dominant disease. The genetic defect appears on the short arm of the chromosome 4, and it is an extended repetition of the three nucleotide bases (cytosine, adenine, and guanine; CAG) that code for the amino acid glutamate. This disease affects men and women equally, and it usually appears after the individuals have married and had children. The children of an affected parent have a 50% chance of inheriting the disease. With the discovery of the defective gene, it is now possible to have an accurate diagnosis before the onset of the disease. The early indications of Huntington’s disease are not prominent; the individuals become absentminded, easily irritated, and constantly depressed. Their memory is diminished, and they lack spontaneity, initiative, and the ability to concentrate. There are also early subtle signs of choreiform (dance-like) movements. The persons begin with "piano-playing" movements of the fingers or with slight facial twitching (Martin, 1984). The movements gradually become more uncontrollable. ... ...s? Trends in Neurological Sciences, 16 (4): pp. 125-131. Choi, Dennis W. (1988). Glutamate neurotoxicity and diseases of the nervous system. Neuron, pp.623-632. Prim, D. M., Simpson, J., Uhler, T. A., Short, M. P., Bossi, S. R., Breakefield, X. O., & Isacson, O. (1993). Striatal degeneration induced by mitochondrial blockade is prevented by biologically delivered NGF. Journal of Neuroscience Research, 35: pp. 452-458. Martin, Joseph B. (1984). Huntington’s disease: New approaches to an old problem. Neurology, 34: pp. 1059-1071. Willard, Frank H. (1993). Medical Neuroanatomy: A Problem- Oriented Manual with Annotated Atlas. Philadelphia: J. B. Lippincott Company. Young, Anne B. (1993). Role of excitotoxins in heredito-degenerative neurologic diseases. Research Publications- Association for Research in Nervous and Mental Diseases, 71: pp. 175-189. Huntington’s Disease Essay -- Health Medical Medicine Essays Huntington’s Disease Huntington’s disease is a fatal inherited disorder characterized by slow gradual personality changes, dementia, and choreiform movements. It is a progressive disease; its average onset is thirty to forty years of age, and the duration of the disease is about ten to twenty years with death as the outcome. It is known that for Huntington’s disease, there is a degeneration of cholinergic and GABAergic neurons in the basal ganglia and the cerebral cortex. The etiology of nerve cell death in Huntington’s disease is unknown. However, there is a recent hypothesis implicating defects in mitochondrial energy metabolism as the pathology of Huntington’s disease. Huntington’s disease is an autosomal dominant disease. The genetic defect appears on the short arm of the chromosome 4, and it is an extended repetition of the three nucleotide bases (cytosine, adenine, and guanine; CAG) that code for the amino acid glutamate. This disease affects men and women equally, and it usually appears after the individuals have married and had children. The children of an affected parent have a 50% chance of inheriting the disease. With the discovery of the defective gene, it is now possible to have an accurate diagnosis before the onset of the disease. The early indications of Huntington’s disease are not prominent; the individuals become absentminded, easily irritated, and constantly depressed. Their memory is diminished, and they lack spontaneity, initiative, and the ability to concentrate. There are also early subtle signs of choreiform (dance-like) movements. The persons begin with "piano-playing" movements of the fingers or with slight facial twitching (Martin, 1984). The movements gradually become more uncontrollable. ... ...s? Trends in Neurological Sciences, 16 (4): pp. 125-131. Choi, Dennis W. (1988). Glutamate neurotoxicity and diseases of the nervous system. Neuron, pp.623-632. Prim, D. M., Simpson, J., Uhler, T. A., Short, M. P., Bossi, S. R., Breakefield, X. O., & Isacson, O. (1993). Striatal degeneration induced by mitochondrial blockade is prevented by biologically delivered NGF. Journal of Neuroscience Research, 35: pp. 452-458. Martin, Joseph B. (1984). Huntington’s disease: New approaches to an old problem. Neurology, 34: pp. 1059-1071. Willard, Frank H. (1993). Medical Neuroanatomy: A Problem- Oriented Manual with Annotated Atlas. Philadelphia: J. B. Lippincott Company. Young, Anne B. (1993). Role of excitotoxins in heredito-degenerative neurologic diseases. Research Publications- Association for Research in Nervous and Mental Diseases, 71: pp. 175-189.

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