Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
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| Title: | Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia. |
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| Authors: | Menden B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Incebacak Eltemur RD; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Huridou C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany., Fath F; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Department of Neurology, St. Josef Hospital, Ruhr University Bochum, Bochum, Germany., Nümann A; Department of Neurology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Baumann A; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, Germany., Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Dufke C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Regensburger M; Department of Molecular Neurology, University Hospital Erlangen, Erlangen, Germany., Rönnefarth M; Department of Neurology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Wilke V; Department of Neurology and Center for rare diseases, University Hospital Tübingen, Tübingen, Germany., van Os N; Department of Neurology, Radboud University medical center, Nijmegen, Netherlands., Vielhaber S; Department of Neurology, University Hospital Magdeburg, Magdeburg, Germany., Rattay TW; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, Germany.; Center for Rare Diseases, University Hospital Kiel, Kiel, Germany.; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Kohl Z; Department of Neurology, University Hospital Regensburg, Regensburg, Germany., Peralta S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Pereira Sena P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Kellner M; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Weissert N; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Traschütz A; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University Hospital Tübingen, Tübingen, Germany., Zeltner L; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Boelmans K; Department of Neurology, University Hospital Würzburg, Würzburg, Germany.; Department of Neurology, Klinikum Bremerhaven-Reinkenheide, Bremerhaven, Germany., Deininger N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Gross C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hinojosa Amaya AB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Raupach K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hengel H; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Harmuth F; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Admard J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Bader I; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Baumann S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Bender F; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Bevot A; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Bischoff A; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany., Boschann F; Institute of Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Buchzik D; Sozialpädiatrisches Zentrum, Diakoneo Diak Klinikum Schwäbisch Hall, Schwäbisch Hall, Germany., Casadei N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Catarino CB; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany., Cordts I; Department of Neurology, Technical University Munich, Munich, Germany., Cremer K; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany., Doebler-Neumann M; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Elbracht M; Center for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, Aachen, Germany., Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Feindt T; Praxis Neurologie Magdeburg, Magdeburg, Germany., Fleszar Z; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Gerstner L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Gläser D; genetikum, Neu-Ulm, Germany., Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Grosch S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Grundmann K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Gutschalk A; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany., Haaga M; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Hayer S; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Hehr U; Zentrum für Humangenetik Regensburg, Regensburg, Germany., Hellenbroich Y; Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Henn W; Institute of Immunology and Genetics, Practice for human genetics in the Medicushaus Kaiserslautern, Kaiserslautern, Germany., Herr B; Institute of Human Genetics, University Hospital Freiburg, Freiburg, Germany., Herzog R; Department of Neurology, University Hospital Lübeck, Lübeck, Germany., Horber V; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Deppe J; Department of Neurology, Technical University Munich, Munich, Germany., Kaiser N; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Kehrer C; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Kehrer M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Kern J; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Keßler C; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Khuller K; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany., Kotzaeridou U; Department of Pediatrics, University of Heidelberg, Heidelberg, Germany., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany., Kreiss M; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany., Küpper H; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Kuster A; Department of Pediatrics, University of Nantes, Nantes, France., Laugwitz L; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Lesemann A; Department of Neurology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Lichey N; Praxis für Humangenetik, Bremen, Germany., Linden T; Department of Pediatrics, University of Oldenburg, Oldenburg, Germany., Macek B; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany., Magg J; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Mangold E; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany., Manka E; Department of Pediatrics, University Hospital Essen, Essen, Germany., Marquardt I; Department of Pediatrics, University of Oldenburg, Oldenburg, Germany., Mehnert K; genetikum, Neu-Ulm, Germany., Mengel D; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Morlot S; Institute of Human Genetics, University of Hannover, Hannover, Germany., Oehl-Jaschkowitz B; MVZ Labor Saar GmbH, Praxis für Humangenetik, Homburg, Germany., Pauly MG; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany., Philipp M; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, University of Tübingen, Tübingen, Germany., Radelfahr F; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany., Rautenberg M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Riess A; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Saft C; Department of Neurology, St. Josef Hospital, Ruhr University Bochum, Bochum, Germany., Schlotter-Weigel B; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany., Schmidt A; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Spahlinger V; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Spranger S; Praxis für Humangenetik, Bremen, Germany., Steiner KM; Department of Neurology, University Hospital Essen, Essen, Germany., Stendel C; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany., Thieme A; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Tzschach A; Institute of Human Genetics, University Hospital Freiburg, Freiburg, Germany., Velic A; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany., Wiethoff S; Department of Neurology, University Hospital Münster, Münster, Germany., Wilke C; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University Hospital Tübingen, Tübingen, Germany., Züchner S; Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, USA., Zittel S; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Husain RA; Department of Neuropediatrics, Jena University Hospital, Jena, Germany., Deschauer M; Department of Neurology, Technical University Munich, Munich, Germany., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany., Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Hemmer B; Department of Neurology, Technical University Munich, Munich, Germany., Jacobi H; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany., Klockgether T; Department of Neurology, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany., Klopstock T; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany.; German Centre for Neurodegenerative Diseases (DZNE) Site Munich, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Kobeleva X; Department of Neurology, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.; Computational Neurology Group, Medical Faculty, Ruhr University Bochum, Bochum, Germany., Korenke GC; Department of Pediatrics, University of Oldenburg, Oldenburg, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Kuhlenbäumer G; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, Germany., Kurth I; Center for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, Aachen, Germany., Nguyen HP; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany., Wunderlich G; Department of Neurology and Center for Rare Diseases, University of Cologne, Faculty of Medicine and University Hospital, Köln, Germany., Zeuner KE; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, Germany., Klebe S; Department of Neurology, University Hospital Essen, Essen, Germany.; Department of Neurology, Knappschaftskrankenhaus Recklinghausen, Recklinghausen, Germany., Auer-Grumbach M; Department of Orthopedics and Trauma-Surgery, University Hospital Vienna, Vienna, Austria., Butryn M; Deutsches Zentrum für Neurodegenerative Erkrankungen Magdeburg, Magdeburg, Germany., Winkler J; Department of Molecular Neurology, University Hospital Erlangen, Erlangen, Germany.; Center for Rare Diseases Erlangen (ZSEER), University Hospital Erlangen, Erlangen, Germany., Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Synofzik M; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University Hospital Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE) Site Tübingen, Tübingen, Germany., van de Warrenburg B; Department of Neurology, Radboud University medical center, Nijmegen, Netherlands., Schüle R; Hertie Institute for Clinical Brain Research and Center of Neurology, University Hospital Tübingen, Tübingen, Germany.; Division of Neurodegenerative Diseases and Movement Disorders, Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany., Schöls L; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE) Site Tübingen, Tübingen, Germany., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), Tübingen, Germany., Weber JJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. jonaszjeremiasz.weber@rub.de.; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany. jonaszjeremiasz.weber@rub.de., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. tobias.haack@med.uni-tuebingen.de.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany. tobias.haack@med.uni-tuebingen.de.; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), Tübingen, Germany. tobias.haack@med.uni-tuebingen.de. |
| Corporate Authors: | Solve-RD consortium |
| Source: | Nature communications [Nat Commun] 2026 Feb 14; Vol. 17 (1), pp. 1698. Date of Electronic Publication: 2026 Feb 14. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2041-1723 |
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| DOI: | 10.1038/s41467-026-69337-9 |
