%0 Journal Article
%A Menden, Benita
%A Incebacak Eltemur, Rana D
%A Demidov, German
%A Sturm, Marc
%A Park, Joohyun
%A Huridou, Chrisovalantou
%A Fath, Florian
%A Nümann, Astrid
%A Baumann, Alexander
%A Diets, Illja J
%A Dufke, Claudia
%A Regensburger, Martin
%A Rönnefarth, Maria
%A Wilke, Vera
%A van Os, Nienke
%A Vielhaber, Stefan
%A Rattay, Tim
%A Kohl, Zacharias
%A Peralta, Susana
%A Pereira Sena, Priscila
%A Kellner, Melanie
%A Weissert, Nadine
%A Traschuetz, Andreas
%A Zeltner, Lena
%A Boelmans, Kai
%A Deininger, Natalie
%A Schütz, Leon
%A Gross, Caspar
%A Hinojosa Amaya, Ana Beatriz
%A Raupach, Katrin
%A Hengel, Holger
%A Harmuth, Florian
%A Admard, Jakob
%A Bader, Ingrid
%A Baumann, Sarah
%A Bender, Friedemann
%A Bevot, Andrea
%A Bischoff, Almut
%A Boschann, Felix
%A Buchert, Rebecca
%A Buchzik, Daniel
%A Casadei, Nicolas
%A Catarino, Claudia B
%A Cordts, Isabell
%A Cremer, Kirsten
%A Doebler-Neumann, Marion
%A Ehmke, Nadja
%A Elbracht, Miriam
%A Falb, Ruth J
%A Feindt, Thomas
%A Fleszar, Zofia
%A Gerstner, Lea
%A Gläser, Dieter
%A Grasshoff, Ute
%A Grosch, Sarah
%A Grundmann, Kathrin
%A Gutschalk, Alexander
%A Haaga, Manja
%A Hayer, Stefanie
%A Hehr, Ute
%A Hellenbroich, Yorck
%A Henn, Wolfram
%A Herr, Barbara
%A Herzog, Rebecca
%A Horber, Veronka
%A Deppe, Jonas
%A Kaiser, Nadja
%A Kehrer, Christiane
%A Kehrer, Martin
%A Kern, Jan
%A Keßler, Christoph
%A Khuller, Katharina
%A Klinkhammer, Hannah
%A Kotzaeridou, Urania
%A Krawitz, Peter
%A Kreiss, Martina
%A Küpper, Hanna
%A Kuster, Alice
%A Laugwitz, Lucia
%A Lesemann, Anne
%A Lichey, Nadine
%A Linden, Tobias
%A Macek, Boris
%A Magg, Janine
%A Mangold, Elisabeth
%A Manka, Eva
%A Marquardt, Iris
%A Mehnert, Karl
%A Mengel, David
%A Morlot, Susanne
%A Oehl-Jaschkowitz, Barbara
%A Pauly, Martje G
%A Philipp, Melanie
%A Radelfahr, Florentine
%A Rautenberg, Maren
%A Riess, Angelika
%A Saft, Carsten
%A Schlotter-Weigel, Beate
%A Schmidt, Axel
%A Schwaibold, Eva M C
%A Spahlinger, Veronika
%A Spranger, Stephanie
%A Steiner, Katharina Marie
%A Stendel, Claudia
%A Thieme, Andreas
%A Tzschach, Andreas
%A Velic, Ana
%A Wiethoff, Sarah
%A Wilke, Carlo
%A Züchner, Stephan
%A Zittel, Simone
%A Husain, Ralf A
%A Deschauer, Marcus
%A Distelmaier, Felix
%A Dufke, Andreas
%A Graessner, Holm
%A Hemmer, Bernhard
%A Jacobi, Heike
%A Klockgether, Thomas
%A Klopstock, Thomas
%A Kobeleva, Xenia
%A Korenke, Georg-Christoph
%A Kuechler, Alma
%A Kuhlenbäumer, Gregor
%A Kurth, Ingo
%A Nguyen, Huu Phuc
%A Wunderlich, Gilbert
%A Zeuner, Kirsten E
%A Klebe, Stephan
%A Auer-Grumbach, Michaela
%A Butryn, Michaela
%A Winkler, Jürgen
%A Timmann, Dagmar
%A Synofzik, Matthis
%A van de Warrenburg, Bart
%A Schüle-Freyer, Rebecca
%A Schöls, Ludger
%A Ossowski, Stephan
%A Riess, Olaf
%A Weber, Jonasz J
%A Haack, Tobias B
%T Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
%J Nature Communications
%V 17
%N 1
%@ 2041-1723
%C [London]
%I Springer Nature
%M DZNE-2026-00201
%P 1698
%D 2026
%X Most patients with a rare movement disorder (MD) do not receive a molecular diagnosis, and the underlying genetic variants and mediating genes remain elusive. Here, we evaluate the diagnostic accuracy of conventional and next-generation sequencing-based genetic testing strategies in a cohort of 2,811 individuals with ataxia, spastic paraplegia and dystonia. Exome sequencing establishes genetic diagnoses in 19.3
%K Humans
%K Calpain: metabolism
%K Calpain: genetics
%K Muscle Spasticity: genetics
%K Muscle Spasticity: diagnosis
%K Muscle Spasticity: metabolism
%K Spinocerebellar Ataxias: genetics
%K Spinocerebellar Ataxias: diagnosis
%K Spinocerebellar Ataxias: metabolism
%K Male
%K Female
%K 12E7 Antigen: genetics
%K 12E7 Antigen: metabolism
%K Optic Atrophy: genetics
%K Optic Atrophy: diagnosis
%K Adult
%K Loss of Function Mutation
%K Exome Sequencing
%K Adolescent
%K Cohort Studies
%K Fibroblasts: metabolism
%K Child
%K Middle Aged
%K Genetic Testing
%K Genetic Diseases, X-Linked: genetics
%K Genetic Diseases, X-Linked: diagnosis
%K Young Adult
%K Intellectual Disability
%K Calpain (NLM Chemicals)
%K CAPN1 protein, human (NLM Chemicals)
%K 12E7 Antigen (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:41690933
%R 10.1038/s41467-026-69337-9
%U https://pub.dzne.de/record/285259