Characterizing the Spinal Cord Degenerative Phenotype of the AMPD2 Deficiency
Date
2018
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Haverford College. Department of Psychology
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Thesis
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Award
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eng
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Open Access
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Abstract
Mutations in the adenosine monophosphate deaminase 2 gene (AMPD2) cause neurodegenerative disorders known as Pontocerebellar Hypoplasia (PCH) and Heredity Spastic Paraplegias (HSP). These diseases are characterized by neurodevelopmental disability and neurodegeneration of corticospinal neurons. The developmental impairment of the corticospinal neurons in these diseases is not yet understood. Using a mouse model and patient derived pluripotent stem cells, the present study looks to characterize the abnormal development and degeneration of these neurons. The results of the study show that there is no difference in the development or degeneration of corticospinal and other cortical neurons of mice analyzed at several developmental and young adult ages. In the future, the stem cell protocol used in the study is expected to generate a more physiologically reproducible model of the cortical atrophy seen in patients with PCH and HSP.