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Abstract #1796

Quantitative subcortical morphometry in mTOR/AKT/PI3K pathway disorders: A novel clinical biomarker

Matthew J Barkovich1, Ryan M Nillo1, Chin Hong Tan1, Leo Sugrue1, Anthony James Barkovich1, and Rahul S Desikan1

1Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, United States

Subcortical volumes were quantitatively evaluated on clinical MRI exams of neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC) patients. Robustly larger volumes of several subcortical structures, including the thalamus, hippocampus and ventral diencephalon, were found in NF1; characteristic NF1 imaging abnormalities are found in these areas. In TSC, we found smaller cerebellar volumes; findings that have been associated with autistic phenotypes. Cluster analysis reveals three distinct clustering patterns, each corresponding to a patient class. These results show the feasibility of obtaining automatic quantitative measurements of anatomic structures from clinical MRI exams.

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