Assessment of Disease Severity in Late Infantile Neuronal Ceroid Lipofuscinosis using Multiparametric MRI

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

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.