<scp><i>EFNB3</i></scp> Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder
Similar to humans, CMMs may occur in dogs as an inherited disease as a result of a spontaneously arisen genetic variant. The CMM1 phenotype in dogs resembles the phenotype of experimentally induced Efnb3<sup>-/-</sup> knockout mice. So far, no human patients with EFNB3-related CMMs have been reported. Our study provides the first naturally occurring large-animal model for CMMs. EFNB3 should be considered a candidate gene in human CMM patients with unclear disease etiology. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Florian Bartenschlager (ORCID: https://orcid.org/0000-0001-7850-5269)
- Achim D. Gruber (ORCID: https://orcid.org/0000-0002-4502-0393)
- Vidhya Jagannathan (ORCID: https://orcid.org/0000-0002-8155-0041)
- Jörg T. Epplen (ORCID: https://orcid.org/0000-0002-6087-3327)
- Tosso Leeb (ORCID: https://orcid.org/0000-0003-0553-4880)
- Wolfgang Baumgärtner (ORCID: https://orcid.org/0000-0001-8151-5644)
- Julien Guevar (ORCID: https://orcid.org/0000-0001-9868-5703)
- Judith Braun
- Wencke Reineking (ORCID: https://orcid.org/0000-0002-8223-7233)
- Olivia Kershaw (ORCID: https://orcid.org/0000-0002-3686-9993)
- Kailash P. Bhatia (ORCID: https://orcid.org/0000-0001-8185-286X)
- Cleo Schwarz (ORCID: https://orcid.org/0009-0006-7595-2817)
Institutions
- University of Bern (CH)
- University of Veterinary Medicine Hannover, Foundation (DE)
- Landeszentrum Gesundheit Nordrhein-Westfalen (DE)
- Amedes Genetics (Germany) (DE)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
- Freie Universität Berlin (DE)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-05-22
- DOI
- https://doi.org/10.1002/mds.30243
- Citations
- 3
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.73