Kamila U. Szulc1, Sungheon Kim2, Edward J. Houston1, Eugenia R. Volkova1, Jason P. Lerch3, Alexandra L. Joyner4, Daniel H. Turnbull1, 2
1Kimmel Center for Biology and Medicine at the Skirball Institute of Biomolecular Medicine, NYU School of Medicine, New York, NY, United States; 2Radiology, NYU School of Medicine, New York, NY, United States; 3Mouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario, Canada; 4Developmental Biology Program, Memorial Sloan-Kettering Institute, New York, NY, United States
Previously we have shown that Gbx2-conditional knockout mice have hypoplasia of the vermian lobules and abnormalities in the deep cerebellar nuclei (DCN). DCN contain projection neurons that form the cerebellar peduncles, which comprise the major input and output circuitry of the Cb. We hypothesized that abnormal morphology of the DCN is likely to be accompanied by microstructural abnormalities in the cerebellar peduncles, which was investigated using diffusion tensor imaging. Our work is of particular importance as several clinical studies of autistic individuals found chromosomal abnormalities in 2q37 region in which human homologue of Gbx2 gene is known to be located.