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Abstract #2325

Autosomal dominant cerebellar ataxia: The search for imaging biomarkers

Isaac Mawusi Adanyeguh1, Pierre-Gilles Henry2, Vincent Perlbarg1, Tra My Nguyen1, Daisy Rinaldi1, Celine Jauffret1, Romain Valabregue1,3, Uzay Emrah Emir2, Dinesh Kumar Deelchand2, Alexis Brice1, Gulin Oz2, Alexandra Durr1, and Fanny Mochel1

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 Magnetic Resonance Research, University of Minnesota, Minneapolis, MN, United States, 3Center for NeuroImaging Research, Institut du Cerveau et de la Moelle épinière, 75013 Paris, France

Spinocerebellar ataxias (SCAs) are neurodegenerative disorders characterized by predominant atrophy of the cerebellum and pons, with the main symptom being ataxia. There is currently no treatment for this disorder due to the lack of robust biomarkers to evaluate the disease progression. This study aimed to identify robust biomarkers for this disorder using a combination of magnetic resonance spectroscopy and imaging techniques. This study confirmed neurometabolic alterations in SCAs as well as microstructural modifications resulting from the disease. This study also showed that imaging biomarkers are more sensitive to disease progression than clinical scores.

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