Neurogenetik & seltene Erkrankungen 88 TECPR2-associated disease: An overlapping spectrum of hereditary sensory autonomic neuropathy and hereditary spastic paraplegia? Barbara Brechmann1,2, Sonja Neuser3, Gali Heimer4,5, Ines Brösse2, Susanna Schubert3, Lauren O’grady6, Michael Zech7,8, Siddharth Srivastava1, David Sweetser6, Yasemin Dincer9,10, Volker Mall9,11, Juliane Winkelmann7,8,12, Christian Behrends13, Basil Darras14, Robert Graham15, Parul Jayakar16, Barry Byrne17, Bat El Bar-Aluma4,5, Yael Haberman4,5,18, Amir Szeinberg4,5, Hesham Mohamed Aldhalaan19, Mais Hashem20, Amal Al Tenaiji21, Omar Ismayl21, Asma Al Nuaimi21, Karima Maher21, Shahnaz Ibrahim22, Fatima Khan22, Henry Houlden23, Vijayalakshmi Salem Ramakumaran24, Alistair Pagnamenta25, Jennifer Posey26, James R Lupski26,27,28,29, Wen-Hann Tan30, Gehad Elghazali21, Isabella Herman26,27,28, Tatiana Munoz31, Gabriela Repetto31, Angelika Seitz32, Mandy Krumbiegel33, Maria Cecilia Poli31,34, Usha Kini24, Stephanie Efthymiou23, Jens Meiler35,36, Reza Maroofian23, Fowzan Alkuraya37,38, Grace Vassallo39, Charulata Deshpande40, Rami Abou Jamra3, Bernt Popp3, Bruria Ben Zeev4,5, Darius Ebrahimi-Fakhari1 1Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Harvard Medical School, Boston, United States; 2Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Deutschland; 3Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Deutschland; 4Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Ramat Gan, Israel; 5Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; 6Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, United States; 7Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Deutschland; 8Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Deutschland; 9Social Pediatrics, Department of Pediatrics, Technische Universität München, Munich, Deutschland; 10Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ), Martinsried, Deutschland; 11kbo-Kinderzentrum München, Munich, Deutschland; 12Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany Munich Cluster for Systems Neurology (Synergy), Ludwig-Maximilians-Universität München, Munich, Deutschland; 13Munich Cluster for Systems Neurology (Synergy), Ludwig-Maximilians-Universität München, Munich, Deutschland; 14Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, United States; 15Department of Anesthesia, Critical Care and Pain Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, United States; 16Nicklaus Children’s Hospital, Miami, United States; 17Powell Gene Therapy Center, University of Florida, Gainesville, United States; 18Cincinnati Children’s Hospital Medical Center and the University of Cincinnati College of Medicine, Cincinnati, United States; 19Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; 20Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Department of Translational Genomics, Riyadh, Saudi Arabia; 21Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates; 22Department of Paediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan; 23Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom; 24Oxford Centre for Genomic Medicine, Oxford, United Kingdom; 25NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom; 26Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States; 27Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, United States; 28Texas Children’s Hospital, Houston, United States; 29Human Genome Sequencing Center, Baylor College of Medicine, Houston, United States; 30Division of Genetics and Genomics, Boston Children’s Hospital, Boston, United States; 31Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile; 32Department of Diagnostic and Interventional Radiology, Heidelberg University Hospital, Heidelberg, Deutschland; 33Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Deutschland; 34Department of Pediatrics, Baylor College of Medicine, Houston, United States; 35Department of Abstracts 405