FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Authors

Rattay TW1,2, Lindig T3, Baets J4,5,6, Smets K4,5,6, Deconinck T4,5, Söhn AS7, Hörtnagel K8, Eckstein KN1,2,9, Wiethoff S1,2, Reichbauer J1, Döbler-Neumann M10, Krägeloh-Mann I10, Auer-Grumbach M11, Plecko B12, Münchau A13, Wilken B14, Janauschek M15, Giese AK16, De Bleecker JL17, Ortibus E18, Debyser M19, Lopez de Munain A20,21, Pujol A22,23,24, Bassi MT25, D’Angelo MG26, De Jonghe P4,5,6, Züchner S27,28, Bauer P7,29, Schöls L1,2, Schüle R1,2.
  1. Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Tübingen, Germany.
  2. German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  3. Department of Diagnostic and Interventional Neuroradiology, University Hospital Tübingen, Tübingen, Germany.
  4. Neurogenetics Group, University of Antwerp, Antwerp, Belgium.
  5. Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  6. Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
  7. Department of Medical Genetics, Institute of Human Genetics, University of Tübingen, Tübingen, Germany.
  8. CeGaT GmbH, Tübingen, Germany.
  9. Department of Psychiatry, University of Tübingen, Tübingen, Germany.
  10. Department of Pediatric Neurology, University Children’s Hospital, Tübingen, Germany.
  11. Department of Orthopaedics and Trauma-Surgery, Medical University Vienna, Vienna, Austria.
  12. Division of Child Neurology, University Childrens Hospital Zurich, Zurich, Switzerland.
  13. Department of Pediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Germany.
  14. Department of Neuropediatrics, Klinikum Kassel, Germany.
  15. Department for Social Pediatrics, Kinderhospital Osnabrück, Germany.
  16. Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  17. Department of Neurology, University Hospital Ghent, Ghent, Belgium.
  18. Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
  19. Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
  20. CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain.
  21. Neuroscience Area, Institute Biodonostia, and Department of Neurosciences, University of Basque Country EHU-UPV, San Sebastián, Spain.
  22. Neurometabolic Diseases Laboratory, Institut d’Investigació Biomedica de Bellvitge IDIBELL, Hospital Duran i Reynals, Barcelona, 08908, Spain.
  23. Centre for Biomedical Research on Rare Diseases (CIBERER), Institute Carlos III, Madrid, Spain.
  24. Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain.
  25. Scientific Institute IRCCS E. Medea, Laboratory of Molecular Biology, 23842 Bosisio Parini, Lecco, Italy.
  26. Scientific Institute IRCCS E. Medea, Neuromuscular Unit, 23842 Bosisio Parini , Lecco, Italy.
  27. John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL33136 Miami, USA.
  28. Dr. John T. Macdonald Foundation, Department of Human Genetics, FL33136 Miami, USA.29CENTOGENE AG, Rostock, Germany.