Abstract #3774

Biomarkers of dynamic energy metabolism in Huntington disease

Isaac Mawusi Adanyeguh¹, Francesca Branzoli^1,2, Marie-Pierre Luton¹, Ben Cassidy³, Emmanuel Brouillet ⁴, Caroline Rae⁵, Pierre-Gilles Henry⁶, and Fanny Mochel^1,7,8

¹Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France, ²Center for NeuroImaging Research, Institut du Cerveau et de la Moelle épinière, Paris, France, ³Columbia University, Department of Statistics, New York, NY, United States, ⁴MIRCeN, Fontenay-aux-Roses, France, ⁵Neuroscience Research Australia, Sydney, Australia, ⁶Center for Magnetic Resonance Research (CMRR), University of Minnesota, Minneapolis, MN, United States, ⁷AP-HP, Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France, ⁸University Pierre and Marie Curie, Neurometabolic Research Group, Paris, France

Huntington disease (HD) is a dominantly inherited neurodegenerative disease characterized by involuntary abnormal movements, cognitive and psychiatric symptoms. Evidence suggests that energy deficit plays a critical role in the disease pathophysiology. There is however a lack of robust biomarkers for testing therapeutic strategies targeting brain energy metabolism. This study aims to measure dynamic parameters of brain energy metabolism and identify novel functional biomarkers of for use in therapeutic trials in HD. This study showed altered creatine kinase rate in patients with HD as well as altered diffusion rates of several metabolites in the corpus callosum of patients with HD.

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