Observing Brain Structural Volumes of Patients with Mucopolysaccharidosis VI through MR Data

Chen, Kendrew T
2022-06
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Observing Brain Structural Volumes of Patients with Mucopolysaccharidosis VI through MR Data

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2022-06

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Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive lysosomal storage disorder affecting multiple systems throughout the body, including the brain. A mutation in the ARSB gene causes a N-acetylgalactosamine 4-sulfatase enzyme deficiency, leading to a buildup of various glycosaminoglycans within lysosomes and the extracellular space of cells. Clinical symptoms can manifest neurologically, cognitively, and physically. At the moment, there are treatments for managing somatic symptoms, but no evidence of a cure. Previous magnetic resonance imaging (MRI) research on MPS VI describes abnormal findings including enlarged ventricles and perivascular spaces, alongside white matter lesions. White and gray matter volume changes are found at a lesser extent in MPS VI patients, in comparison to other types of MPS diseases. Unfortunately, most of these investigations did not exceed a one-year timeframe, limiting the conclusions on the diseases’ progression. To get a better understanding and obtain a more robust sample of possible changes, this study analyzed MPS VI patient data that was collected over the course of 1-4 years. Additionally, the MPS VI patient’s brain volumes will be compared to healthy controls to confirm previous findings and possibly identify other structures that are affected by MPS VI.

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Chen, Kendrew T. (2022). Observing Brain Structural Volumes of Patients with Mucopolysaccharidosis VI through MR Data. Retrieved from the University Digital Conservancy, https://hdl.handle.net/11299/227896.

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