Jonathan P. Dyke1, Dolan Sondhi2, Henning U. Voss1, Dikoma C. Shungu1, Xiangling Mao1, Kaleb Yohay3, Stefan Worgall3, Neil R Hackett2, Charlene Hollmann2, Mary E. Yeotsas2, Stephen M. Kaminsky2, Barry Kosofsky3, Linda A. Heier1, Ronald G. Crystal2, Douglas Ballon1
1Radiology, Weill Cornell Medical College, New York, NY, United States; 2Genetic Medicine, Weill Cornell Medical College, New York, NY, United States; 3Pediatrics, Weill Cornell Medical College, New York, NY, United States
Five MR imaging biomarkers were combined into a single multivariate imaging metric that correlated with the clinical Weill Cornell LINCL score of disease severity. Whole brain assessment of apparent diffusion coefficient (ADC), fractional anisotropy (FA), MR spectroscopy (NAA/Cre Ratio), T2-measurement and % CSF volume were obtained on 10 subjects at various stages of Batten disease. The combined imaging metric correlated better with the LINCL score than individual measures alone. This resulted in a robust and objective assessment of whole brain degeneration independent of age that may be useful in serial monitoring of subjects during various therapy regimens.