Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy.
Shawna R CookCleo SchwarzJulien GuevarCharles-Antoine AssenmacherMaeve SheehyNathan FanzoneMolly E ChurchLeonardo MurgianoMargret L CasalVidhya JagannathanRodrigo Gutierrez QuintanaMark LowrieFrank SteffenTosso LeebKari J EkenstedtPublished in: Movement disorders : official journal of the Movement Disorder Society (2024)
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.