Abstract #2741
Advanced multimodal MRI detects premanifest and early-stage alterations in SCA1 and SCA3 with high sensitivity
Jayashree Chandrasekaran1, Young Woo Park1, Emilien Petit2, Sophie Tezenas du Montcel2, Michal Povazan3, Guita Banan4, Romain Valabregue2, Philipp Ehses5, Jennifer Faber5, James M. Joers1, Pierrick Coupé6, Jose Vincente Manjón Herrera7, Chiadi U. Onyike3, Peter B. Barker3, Jeremy D. Schmahman8, Eva Maria Ratai8, S.H Subramony4, Thomas H. Mareci4, Khalaf O. Bushara9, Henry Paulson10, Alexandra Durr2, Thomas Klockgether5, Tetsuo Ashizawa11, Christophe Lenglet1, and Gulin Oz1
1Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN, United States, 2Sorbonne University, Paris, France, 3Johns Hopkins University, Baltimore, MD, United States, 4University of Florida, Gainesville, FL, United States, 5German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany, 6University of Bordeaux, Bordeaux, France, 7Universidad Politécnica de Valencia, Valencia, Spain, 8Massachusetts General Hospital, Charlestown, MA, United States, 9University of Minnesota, Minneapolis, MN, United States, 10University of Michigan, Ann Arbor, MI, United States, 11The Houston Methodist Research Institute, Houston, TX, United States
Synopsis
Spinocerebellar ataxias are rare inherited neurodegenerative diseases that cause degeneration in the cerebellum and brainstem. The multi-site READISCA clinical trial readiness study aims to validate MR biomarkers at early stages of SCA1 and SCA3. SCA gene carriers (including individuals at pre-ataxic and ataxic stage) and matched controls (total N=107) were scanned at 3T to obtain structural and diffusion MRI and MR spectroscopy. Medulla, pons, and cerebellar peduncles were the earliest sites of involvement in both SCAs. Neurochemical and microstructural abnormalities were detected with very high sensitivity (AUC>0.9 in ROC analyses) prior to ataxia onset.
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