Abstract #3646

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

Farida Grinberg^1,2, Ezequiel Farrher¹, Peter Pieperhoff³, Elena Schlapakow⁴, Vincent Gras¹, Tanja Schmitz-Hübsch⁵, Silke Lux^3,6, Ute Kopp⁷, Hanna Gärtner³, Eylem Kirlangic³, Dagmar Timmann⁸, Matthis Synofzik^9,10, Peter Bauer¹¹, Friedemann Paul^5,7, Matthias Endres^5,7,12, Thomas Klockgether^4,13, N. Jon Shah^1,2, Katrin Amunts^3,14, Sarah Doss^5,7, and Martina Minnerop^3,4,15

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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