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Date of Award
Restricted Thesis: Campus only access
Bachelor of Science
Dr. John M. Warrick
Machado-Joseph Disease (MJD), also known as Spinocerebellar Ataxia 3, is a member of the polyglutarnine family of diseases. As with other polyglutarnine diseases, MJD is characterized by an expansion of repeating glutarnine residues. In MJD, this occurs in the Ataxin 3 gene. MJD can be classified into several categories depending on severity and specific physical symptoms (Machado-Joseph Disease Fact Sheet). There is high disease prevalence in people from Portugal and the Azores (Sudarsky and Coutinho, 1995). Although a wide range of disease symptoms exists, the most common include a loss of eye control and difficulty walking (Sudarsky and Coutinho, 1995). Difficulty in swallowing may lead to pneumonia, which often proves fatal for MJD patients (Machado-Joseph Disease Fact Sheet).
Nagraj, Joe, "Modulation of CREB binding protein in a Drosophila model of Machado-Joseph-Disease" (2007). Honors Theses. 190.