The purpose of this study is to better understand the brain pathophysiology that results in cognitive and behavioral abnormality or decline in lysosomal storage disorders (LSDs) and other neurodegenerative disorders (e.g., mucopolysaccharodises, gangliosidoses, mucolipidoses, etc.). LSDs are a group of inherited metabolic diseases in which a defective or missing enzyme results in the accumulation of harmful amounts of storage materials in cells and tissues. There are different types of LSDs with varying degrees of severity and a characteristic phenotype. These studies include measures of cognitive ability, attention, memory, and visual-spatial skills as well as acquisition of high field (3 Tesla) images for volumetric analysis, diffusion tensor imaging, resting state MRI, and other imaging modalities.
These researchers are working as part of the Lysosomal Disease Network consortium, which facilitates clinical research in rare lysosomal diseases by: collaborating clinical research; training new investigators; funding pilot, proof of concept studies; and providing access to information related to lysosomal conditions to academia, NIH, and the public. The Neuroimaging Core of the LDN is responsible for neuroimaging surveillance and advisory for the longitudinal studies of the natural history (11 lysosomal disease categories) and 7 pilot studies of measurement of outcome and phase l/ll clinical trials, which are focused on several themes. Data from most LDN neuroimaging studies are analyzed with the use of MSI resources.