Author Manuscript Mutations in  lead to a new recessive ataxia with spasticity and mitochondrial defects RUNNING TITLE: VPS13D in ataxia/spastic paraplegia Eunju Seong 1 , PhD, Ryan Insolera 2 , PhD, Marija Dulovic 3 , PhD, Erik,Jan Kamsteeg 4 , PhD, Joanne Trinh 3 , PhD, Norbert Brüggemann 5 , MD, Erin Sandford 1 , PhD, Sheng Li 13 , PhD, Ayse Bilge Ozel 6 , PhD, Jun Z. Li 6,7 , PhD, Tamison Jewett 8 , MD, Anneke J.A. Kievit 9 , MD PhD, Alexander Münchau 3 , MD, Vikram Shakkottai 10 , MD PhD, Christine Klein 3 , MD, Catherine Collins 2 , PhD, Katja Lohmann 3* , PhD, Bart P. van de Warrenburg 11 *, MD PhD, Margit Burmeister 1,6,7,12 *, PhD  1 Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI 48109, USA. 2 Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, MI 48109, USA. 3 Institute of Neurogenetics, University of Lübeck, Germany 4 Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands 5 Department of Neurology, University of Lübeck, Germany 6 Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA. 7 Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA. 8 Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston, Salem, North Carolina, USA. 9 Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands 10 Departments of Neurology and of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI 48109, USA Page 1 of 76 Annals of Neurology This is the author manuscript accepted for publication and has undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of record. Please cite this article as doi:10.1002/ ana.25220. This article is protected by copyright. All rights reserved.