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Huntington’s Disease: N17 Domain and Its Role in Disease Pathogenesis and a Clinical Case Study
Ha, Yuen Ying 2016 Huntington’s Disease - N17 Domain and Its Role in Disease Pathogenesis and a Clinical Case Study.pdf
AuthorHa, Yuen Y.
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Huntington’s disease (HD) is a hereditary neurodegenerative disease that results in a progressive decrease in mobility and accompanied by emotional disturbance. Even though the location of the gene, HTT, which is responsible for the disease has been identified, more questions regarding its mechanism are still unanswered. This leads to a lack of an effective treatment for this disease. Chapter 1 describes HD more closely with detailed discussion of its clinical symptoms and pathogenesis along with current methods of diagnosis and possible treatments that are being investigated. The current and future direction of research in this disease are also addressed. One of these directions is examined in Chapter 2, which is a literature review on the research surrounding the role of the N17 domain in the pathogenesis of Huntington’s disease. Finally, a clinical case study is presented to explain the diagnosis and treatment plan for a patient with Huntington’s disease.