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Abstract #3646

Multi-modal multi-centre MRI study of rare spinocerebellar ataxia, type 14

Farida Grinberg1,2, Ezequiel Farrher1, Peter Pieperhoff3, Elena Schlapakow4, Vincent Gras1, Tanja Schmitz-Hübsch5, Silke Lux3,6, Ute Kopp7, Hanna Gärtner3, Eylem Kirlangic3, Dagmar Timmann8, Matthis Synofzik9,10, Peter Bauer11, Friedemann Paul5,7, Matthias Endres5,7,12, Thomas Klockgether4,13, N. Jon Shah1,2, Katrin Amunts3,14, Sarah Doss5,7, and Martina Minnerop3,4,15

1Institute of Neuroscience and Medicine 4, Forschungszentrum Jülich, Jülich, Germany, 2Department of Neurology, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, 3Institute of Neuroscience and Medicine 1, Forschungszentrum Jülich, Jülich, Germany, 4Department of Neurology, University Hospital Bonn, Bonn, Germany, 5NeuroCure Clinical Research Center, Charité – Universitätsmedizin Berlin, Berlin, Germany, 6Department of Psychiatry and Psychotherapy, University Hospital Bonn, Bonn, Germany, 7Department of Neurology, Charité – Universitätsmedizin Berlin, Berlin, Germany, 8Department of Neurology, University of Duisburg-Essen, Essen, Germany, 9Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany, 10German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany, 11Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany, 12Center of Stroke Research Berlin (CSB), Charité - University Medicine Berlin, Berlin, Germany, 13German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany, 14C. and O. Vogt Institute for Brain Research, Heinrich Heine University Düsseldorf, Düsseldorf, Germany, 15Center for Movement Disorders and Neuromodulation, Department of Neurology and Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich-Heine University, Düsseldorf, Germany

Diffusion MRI studies reveal significant white matter degeneration in cerebellar and cerebral regions of spinocerebellar ataxia patients, however, only common pathology types have been included. Here, we present the first combined deformation-based morphometry (to depict regions of volume loss), and diffusion tensor/kurtosis imaging study to analyse microstructural changes in the largest reported sample of rare spinocerebellar ataxia, type 14, enrolled in a coordinated multi-centre study. Beyond expected strong changes observed for all metrics in cerebellar regions, axial diffusion kurtosis exhibited additional extracerebellar alterations in compliance with observed extracerebellar symptoms. Our results also suggest that patients might develop compensatory mechanisms.

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