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Unformatted text preview: Clinical Case Analysis #11 Hee-Yun Cha H UN T I NGTONS D ISEASE Huntingtons disease is a neurodegenerative disease in CNS, which affected parent has 50% risk of inheriting to children. The disease affects muscle coordination and cognitive functions. An affected person may display involuntary jerky muscle movement, progressive loss of mental abilities and psychiatric problems. The disease usually appears in middle age, but it can develop in younger or older people. The mutation of the disease produces different form of protein Huntington (HTT protein, mutant HTT) which gradually damages specific areas of the brain. Damage mainly occurs in the striatum of the brain, but as the disease progresses other areas of the brain such as substantia nigra, some part of cerebral cortex, the hypothalamus, purkinje cells in the cerebellum, and the thalamus become also significantly damaged. It is a t rinucleotide repeat disorder which is caused by the length of a repeated part of a specific gene exceeding...
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