Chiao-Chi V. Chen1,2, Zhi-Xuan Kuo1,2, Hsiu-Mei Hsieh3, Chen Chang1,2
1Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan; 2Functional & Micro-magnetic Resonance Imaging Center, Academic Sinica, Taipei, Taiwan; 3Department of Life Science, National Taiwan Normal University, Taipei, Taiwan
Spinocerebellar ataxia (SCA) 17 is a rare neurodegenerative disorder caused by an expanded polyglutamine in the TATA-binding protein (TBP). Little is known about the underlying neuroanatomical abnormalities. To better understand SCA 17, in this study, multiparametric MR assays were carried out using T2-weighted imaging based volumetric analysis, diffusion tensor imaging, and magnetic resonance spectroscopy in SCA 17 transgenic mice. The results indicate that shrunk size, increased diffusivity, and decreased NAA levels of the cerebellum surrounded by enlarged ventricular spaces characterize the TG mice of the SCA 17 human disease. These indications reveal the importance of cerebellar cell loss in SCA17.