TPP2 mutation associated with sterile brain inflammation mimicking MS

Eva M Reinthaler1, Elisabeth Graf1, Tobias Zrzavy1

  • 1Department of Neurology (E.M.R., S.P., C.S., F.L., F.Z., A.Z.), Medical University of Vienna, Austria; Institut für Humangenetik (E.G., T.W., T.S.), Helmholtz Zentrum München, Germany; Center for Brain Research (T.Z., H.L.), Medical University of Vienna; Division of Nephrology and Dialysis (C.K.), Department of Internal Medicine III, Medical University of Vienna; Department of Physical Medicine (M.K.), Rehabilitation and Occupational Medicine, Medical University of Vienna, Austria; Lübeck Interdisciplinary Platform for Genome Analytics (C.M.L.), Institutes of Neurogenetics and for Cardiogenetics, University of Lübeck; Department of Neurology and Neuroimaging Center (NIC) (C.M.L.), Focus Program Translational Neuroscience (FTN), University Medical Center of the Johannes Gutenberg University Mainz; Department of Human Genetics (S.H., J.T.E.), Ruhr-University Bochum; Herdecke (J.T.E.), ZBAF, Faculty of Health, University Witten; Department of Neurology (U.K.Z., M.H.), Neuroimmunological Section, University of Rostock; Department of Neurology (A.D.), Department of Clinical Genomics (A.D.), Department of Neuroscience (A.D.), Jeweils Mayo Clinic, Jacksonville, FL; Department of Neurology (S.G.M.), University of Muenster, Germany; Department of Physiology and Biochemistry (M.A., B.M.), School of Medicine, the University of Jordan; The National Center (Institute) for Diabetes (M.E.-K.), Endocrinology and Genetics (NCDEG), Amman, Jordan; Department of Medical Genetics (C.V.-G., A.D.S.), University of British Columbia, Vancouver, Canada; Department of Medical Biochemistry and Microbiology (B.T.), Uppsala University, Sweden; Karl Landsteiner Institute for Neuroimmunological and Neurodegenerative Disorders (W.K.), SMZ-Ost-Donauspital, Vienna, Austria; and Institute for Neuroimmunological and Neurodegenerative Disorders (W.K.), SMZ-Ost-Donauspital, Vienna, Austria.

Neurology. Genetics
|December 12, 2018
PubMed
Summary

A genetic mutation in the tripeptidyl peptidase II (TPP2) gene caused sterile brain inflammation in a Syrian family. This finding suggests TPP2 may have a broader role in multiple sclerosis (MS) inflammation.

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