Canine <scp> <i>RNF170</i> </scp> Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy
RNF170 variants were previously identified in human patients with autosomal recessive spastic paraplegia-85 (SPG85); this clinical phenotype shows similarities to the dogs described herein. We therefore propose that this novel MAS NAD could serve as an excellent large animal model for equivalent human diseases, particularly since affected dogs demonstrate a relatively long lifespan, which represents an opportunity for therapeutic trials. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Leonardo Murgiano (ORCID: https://orcid.org/0000-0002-3539-9344)
- M J Sheehy (ORCID: https://orcid.org/0009-0004-1620-0514)
- Vidhya Jagannathan (ORCID: https://orcid.org/0000-0002-8155-0041)
- Molly E. Church (ORCID: https://orcid.org/0000-0002-4819-3038)
- Nathan Fanzone (ORCID: https://orcid.org/0009-0002-8139-7523)
- Tosso Leeb (ORCID: https://orcid.org/0000-0003-0553-4880)
- Shawna R. Cook (ORCID: https://orcid.org/0000-0001-7967-9607)
- Julien Guevar (ORCID: https://orcid.org/0000-0001-9868-5703)
- Mark Lowrie (ORCID: https://orcid.org/0000-0002-4993-589X)
- Frank Steffen (ORCID: https://orcid.org/0009-0007-0383-1423)
- Margret L. Casal (ORCID: https://orcid.org/0000-0002-1224-6708)
- Kari J. Ekenstedt (ORCID: https://orcid.org/0000-0002-3213-7883)
- Rodrigo Gutierrez‐Quintana (ORCID: https://orcid.org/0000-0002-3570-2542)
- Charles‐Antoine Assenmacher (ORCID: https://orcid.org/0000-0003-0073-2730)
- Cleo Schwarz (ORCID: https://orcid.org/0009-0006-7595-2817)
Institutions
- University of Bern (CH)
- University of Zurich (CH)
- Purdue University West Lafayette (US)
- Willows Veterinary Centre and Referral Service (GB)
- University of Glasgow (GB)
- University of Pennsylvania (US)
Publication Details
- Journal
- Movement Disorders
- Published
- 2024-08-23
- DOI
- https://doi.org/10.1002/mds.29977
- Citations
- 2
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.49
Funders
- University of Bern
- National Institutes of Health
- NIH Office of the Director