Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

Benita Menden, Rana D. Incebacak Eltemur, German Demidov, Marc Sturm, Joohyun Park, Chrisovalantou Huridou, Florian Fath, Astrid Nümann, Alexander Baumann, Illja J. Diets, Claudia Dufke, Martin Regensburger, Maria Rönnefarth, Vera Wilke, Nienke van Os, Stefan Vielhaber, Tim W. Rattay, Zacharias Kohl, Susana Peralta, Priscila Pereira Sena, Melanie Kellner, Nadine Weissert, Andreas Traschütz, Lena Zeltner, Kai Boelmans, Natalie Deininger, Leon Schütz, Caspar Gross, Ana Beatriz Hinojosa Amaya, Katrin Raupach, Holger Hengel, Florian Harmuth, Jakob Admard, Ingrid Bader, Sarah Baumann, Friedemann Bender, Andrea Bevot, Almut Bischoff, Felix Boschann, Rebecca Buchert, Daniel Buchzik, Nicolas Casadei, Claudia B. Catarino, Isabell Cordts, Kirsten Cremer, Marion Doebler-Neumann, Nadja Ehmke, Miriam Elbracht, Ruth J. Falb, Thomas Feindt, Zofia Fleszar, Lea Gerstner, Dieter Gläser, Ute Grasshoff, Sarah Grosch, Kathrin Grundmann, Alexander Gutschalk, Manja Haaga, Stefanie Hayer, Ute Hehr, Yorck Hellenbroich, Wolfram Henn, Barbara Herr, Rebecca Herzog, Veronka Horber, Jonas Deppe, Nadja Kaiser, Christiane Kehrer, Martin Kehrer, Jan Kern, Christoph Keßler, Katharina Khuller, Hannah Klinkhammer, Urania Kotzaeridou, Peter Krawitz, Martina Kreiss, Hanna Küpper, Alice Kuster, Lucia Laugwitz, Anne Lesemann, Nadine Lichey, Tobias Linden, Boris Macek, Janine Magg, Elisabeth Mangold, Eva Manka, Iris Marquardt, Karl Mehnert, David Mengel, Susanne Morlot, Barbara Oehl-Jaschkowitz, Martje G. Pauly, Melanie Philipp, Florentine Radelfahr, Maren Rautenberg, Angelika Riess, Carsten Saft, Beate Schlotter-Weigel, Axel Schmidt, Eva M. C. Schwaibold, Veronika Spahlinger, Stephanie Spranger, Katharina Marie Steiner, Claudia Stendel, Andreas Thieme, Andreas Tzschach, Ana Velic, Sarah Wiethoff, Carlo Wilke, Stephan Züchner, Simone Zittel, Unknown, Nienke van Os, Bart van de Warrenburg, Ralf A. Husain, Marcus Deschauer, Felix Distelmaier, Andreas Dufke, Holm Graessner, Bernhard Hemmer, Heike Jacobi, Thomas Klockgether, Thomas Klopstock, Xenia Kobeleva, Georg-Christoph Korenke, Alma Kuechler, Gregor Kuhlenbäumer, Ingo Kurth, Huu Phuc Nguyen, Gilbert Wunderlich, Kirsten E. Zeuner, Stephan Klebe, Michaela Auer-Grumbach, Michaela Butryn, Jürgen Winkler, Dagmar Timmann, Matthis Synofzik, Bart van de Warrenburg, Rebecca Schüle, Ludger Schöls, Stephan Ossowski, Olaf Riess, Jonasz J. Weber, Tobias B. Haack

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DOI
10.1038/s41467-026-69337-9
Published
2026-02-14
Container
Nature Communications
Publisher
Springer Science and Business Media LLC
Open access
unknown

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@article{allodium:10.1038/s41467-026-69337-9,
  title = {Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia},
  author = {Benita Menden and Rana D. Incebacak Eltemur and German Demidov and Marc Sturm and Joohyun Park and Chrisovalantou Huridou and Florian Fath and Astrid Nümann and Alexander Baumann and Illja J. Diets and Claudia Dufke and Martin Regensburger and Maria Rönnefarth and Vera Wilke and Nienke van Os and Stefan Vielhaber and Tim W. Rattay and Zacharias Kohl and Susana Peralta and Priscila Pereira Sena and Melanie Kellner and Nadine Weissert and Andreas Traschütz and Lena Zeltner and Kai Boelmans and Natalie Deininger and Leon Schütz and Caspar Gross and Ana Beatriz Hinojosa Amaya and Katrin Raupach and Holger Hengel and Florian Harmuth and Jakob Admard and Ingrid Bader and Sarah Baumann and Friedemann Bender and Andrea Bevot and Almut Bischoff and Felix Boschann and Rebecca Buchert and Daniel Buchzik and Nicolas Casadei and Claudia B. Catarino and Isabell Cordts and Kirsten Cremer and Marion Doebler-Neumann and Nadja Ehmke and Miriam Elbracht and Ruth J. Falb and Thomas Feindt and Zofia Fleszar and Lea Gerstner and Dieter Gläser and Ute Grasshoff and Sarah Grosch and Kathrin Grundmann and Alexander Gutschalk and Manja Haaga and Stefanie Hayer and Ute Hehr and Yorck Hellenbroich and Wolfram Henn and Barbara Herr and Rebecca Herzog and Veronka Horber and Jonas Deppe and Nadja Kaiser and Christiane Kehrer and Martin Kehrer and Jan Kern and Christoph Keßler and Katharina Khuller and Hannah Klinkhammer and Urania Kotzaeridou and Peter Krawitz and Martina Kreiss and Hanna Küpper and Alice Kuster and Lucia Laugwitz and Anne Lesemann and Nadine Lichey and Tobias Linden and Boris Macek and Janine Magg and Elisabeth Mangold and Eva Manka and Iris Marquardt and Karl Mehnert and David Mengel and Susanne Morlot and Barbara Oehl-Jaschkowitz and Martje G. Pauly and Melanie Philipp and Florentine Radelfahr and Maren Rautenberg and Angelika Riess and Carsten Saft and Beate Schlotter-Weigel and Axel Schmidt and Eva M. C. Schwaibold and Veronika Spahlinger and Stephanie Spranger and Katharina Marie Steiner and Claudia Stendel and Andreas Thieme and Andreas Tzschach and Ana Velic and Sarah Wiethoff and Carlo Wilke and Stephan Züchner and Simone Zittel and Unknown and Nienke van Os and Bart van de Warrenburg and Ralf A. Husain and Marcus Deschauer and Felix Distelmaier and Andreas Dufke and Holm Graessner and Bernhard Hemmer and Heike Jacobi and Thomas Klockgether and Thomas Klopstock and Xenia Kobeleva and Georg-Christoph Korenke and Alma Kuechler and Gregor Kuhlenbäumer and Ingo Kurth and Huu Phuc Nguyen and Gilbert Wunderlich and Kirsten E. Zeuner and Stephan Klebe and Michaela Auer-Grumbach and Michaela Butryn and Jürgen Winkler and Dagmar Timmann and Matthis Synofzik and Bart van de Warrenburg and Rebecca Schüle and Ludger Schöls and Stephan Ossowski and Olaf Riess and Jonasz J. Weber and Tobias B. Haack},
  year = {2026},
  journal = {Nature Communications},
  doi = {10.1038/s41467-026-69337-9},
  url = {https://doi.org/10.1038/s41467-026-69337-9}
}

RIS

TY  - JOUR
TI  - Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
AU  - Benita Menden
AU  - Rana D. Incebacak Eltemur
AU  - German Demidov
AU  - Marc Sturm
AU  - Joohyun Park
AU  - Chrisovalantou Huridou
AU  - Florian Fath
AU  - Astrid Nümann
AU  - Alexander Baumann
AU  - Illja J. Diets
AU  - Claudia Dufke
AU  - Martin Regensburger
AU  - Maria Rönnefarth
AU  - Vera Wilke
AU  - Nienke van Os
AU  - Stefan Vielhaber
AU  - Tim W. Rattay
AU  - Zacharias Kohl
AU  - Susana Peralta
AU  - Priscila Pereira Sena
AU  - Melanie Kellner
AU  - Nadine Weissert
AU  - Andreas Traschütz
AU  - Lena Zeltner
AU  - Kai Boelmans
AU  - Natalie Deininger
AU  - Leon Schütz
AU  - Caspar Gross
AU  - Ana Beatriz Hinojosa Amaya
AU  - Katrin Raupach
AU  - Holger Hengel
AU  - Florian Harmuth
AU  - Jakob Admard
AU  - Ingrid Bader
AU  - Sarah Baumann
AU  - Friedemann Bender
AU  - Andrea Bevot
AU  - Almut Bischoff
AU  - Felix Boschann
AU  - Rebecca Buchert
AU  - Daniel Buchzik
AU  - Nicolas Casadei
AU  - Claudia B. Catarino
AU  - Isabell Cordts
AU  - Kirsten Cremer
AU  - Marion Doebler-Neumann
AU  - Nadja Ehmke
AU  - Miriam Elbracht
AU  - Ruth J. Falb
AU  - Thomas Feindt
AU  - Zofia Fleszar
AU  - Lea Gerstner
AU  - Dieter Gläser
AU  - Ute Grasshoff
AU  - Sarah Grosch
AU  - Kathrin Grundmann
AU  - Alexander Gutschalk
AU  - Manja Haaga
AU  - Stefanie Hayer
AU  - Ute Hehr
AU  - Yorck Hellenbroich
AU  - Wolfram Henn
AU  - Barbara Herr
AU  - Rebecca Herzog
AU  - Veronka Horber
AU  - Jonas Deppe
AU  - Nadja Kaiser
AU  - Christiane Kehrer
AU  - Martin Kehrer
AU  - Jan Kern
AU  - Christoph Keßler
AU  - Katharina Khuller
AU  - Hannah Klinkhammer
AU  - Urania Kotzaeridou
AU  - Peter Krawitz
AU  - Martina Kreiss
AU  - Hanna Küpper
AU  - Alice Kuster
AU  - Lucia Laugwitz
AU  - Anne Lesemann
AU  - Nadine Lichey
AU  - Tobias Linden
AU  - Boris Macek
AU  - Janine Magg
AU  - Elisabeth Mangold
AU  - Eva Manka
AU  - Iris Marquardt
AU  - Karl Mehnert
AU  - David Mengel
AU  - Susanne Morlot
AU  - Barbara Oehl-Jaschkowitz
AU  - Martje G. Pauly
AU  - Melanie Philipp
AU  - Florentine Radelfahr
AU  - Maren Rautenberg
AU  - Angelika Riess
AU  - Carsten Saft
AU  - Beate Schlotter-Weigel
AU  - Axel Schmidt
AU  - Eva M. C. Schwaibold
AU  - Veronika Spahlinger
AU  - Stephanie Spranger
AU  - Katharina Marie Steiner
AU  - Claudia Stendel
AU  - Andreas Thieme
AU  - Andreas Tzschach
AU  - Ana Velic
AU  - Sarah Wiethoff
AU  - Carlo Wilke
AU  - Stephan Züchner
AU  - Simone Zittel
AU  - Unknown
AU  - Nienke van Os
AU  - Bart van de Warrenburg
AU  - Ralf A. Husain
AU  - Marcus Deschauer
AU  - Felix Distelmaier
AU  - Andreas Dufke
AU  - Holm Graessner
AU  - Bernhard Hemmer
AU  - Heike Jacobi
AU  - Thomas Klockgether
AU  - Thomas Klopstock
AU  - Xenia Kobeleva
AU  - Georg-Christoph Korenke
AU  - Alma Kuechler
AU  - Gregor Kuhlenbäumer
AU  - Ingo Kurth
AU  - Huu Phuc Nguyen
AU  - Gilbert Wunderlich
AU  - Kirsten E. Zeuner
AU  - Stephan Klebe
AU  - Michaela Auer-Grumbach
AU  - Michaela Butryn
AU  - Jürgen Winkler
AU  - Dagmar Timmann
AU  - Matthis Synofzik
AU  - Bart van de Warrenburg
AU  - Rebecca Schüle
AU  - Ludger Schöls
AU  - Stephan Ossowski
AU  - Olaf Riess
AU  - Jonasz J. Weber
AU  - Tobias B. Haack
PY  - 2026
JO  - Nature Communications
DO  - 10.1038/s41467-026-69337-9
UR  - https://doi.org/10.1038/s41467-026-69337-9
ER  -

APA

Menden, B., Eltemur, R. D. I., Demidov, G., Sturm, M., Park, J., Huridou, C., Fath, F., Nümann, A., Baumann, A., Diets, I. J., Dufke, C., Regensburger, M., Rönnefarth, M., Wilke, V., Os, N. V., Vielhaber, S., Rattay, T. W., Kohl, Z., Peralta, S., Sena, P. P., Kellner, M., Weissert, N., Traschütz, A., Zeltner, L., Boelmans, K., Deininger, N., Schütz, L., Gross, C., Amaya, A. B. H., Raupach, K., Hengel, H., Harmuth, F., Admard, J., Bader, I., Baumann, S., Bender, F., Bevot, A., Bischoff, A., Boschann, F., Buchert, R., Buchzik, D., Casadei, N., Catarino, C. B., Cordts, I., Cremer, K., Doebler-Neumann, M., Ehmke, N., Elbracht, M., Falb, R. J., Feindt, T., Fleszar, Z., Gerstner, L., Gläser, D., Grasshoff, U., Grosch, S., Grundmann, K., Gutschalk, A., Haaga, M., Hayer, S., Hehr, U., Hellenbroich, Y., Henn, W., Herr, B., Herzog, R., Horber, V., Deppe, J., Kaiser, N., Kehrer, C., Kehrer, M., Kern, J., Keßler, C., Khuller, K., Klinkhammer, H., Kotzaeridou, U., Krawitz, P., Kreiss, M., Küpper, H., Kuster, A., Laugwitz, L., Lesemann, A., Lichey, N., Linden, T., Macek, B., Magg, J., Mangold, E., Manka, E., Marquardt, I., Mehnert, K., Mengel, D., Morlot, S., Oehl-Jaschkowitz, B., Pauly, M. G., Philipp, M., Radelfahr, F., Rautenberg, M., Riess, A., Saft, C., Schlotter-Weigel, B., Schmidt, A., Schwaibold, E. M. C., Spahlinger, V., Spranger, S., Steiner, K. M., Stendel, C., Thieme, A., Tzschach, A., Velic, A., Wiethoff, S., Wilke, C., Züchner, S., Zittel, S., Unknown, Os, N. V., Warrenburg, B. V. D., Husain, R. A., Deschauer, M., Distelmaier, F., Dufke, A., Graessner, H., Hemmer, B., Jacobi, H., Klockgether, T., Klopstock, T., Kobeleva, X., Korenke, G., Kuechler, A., Kuhlenbäumer, G., Kurth, I., Nguyen, H. P., Wunderlich, G., Zeuner, K. E., Klebe, S., Auer-Grumbach, M., Butryn, M., Winkler, J., Timmann, D., Synofzik, M., Warrenburg, B. V. D., Schüle, R., Schöls, L., Ossowski, S., Riess, O., Weber, J. J., & Haack, T. B. (2026). Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia. Nature Communications. https://doi.org/10.1038/s41467-026-69337-9

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