Clinicopathological and pedigree investigation of a novel spinocerebellar neurological disease in juvenile Quarter Horses in North America.
Abstract: In 2020, a novel neurologic disease was observed in juvenile Quarter Horses (QHs) in North America. It was unknown if this was an aberrant manifestation of another previously described neurological disorder in foals, such as equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM). Objective: To describe the clinical findings, outcomes, and postmortem changes with Equine Juvenile Spinocerebellar Ataxia (EJSCA), differentiate the disease from other similar neurological disorders, and determine a mode of inheritance. Methods: Twelve neurologically affected QH foals and the dams. Methods: Genomic DNA was isolated and pedigrees were manually constructed. Results: All foals (n = 12/12) had a history of acute onset of neurological deficits with no history of trauma. Neurological deficits were characterized by asymmetrical spinal ataxia, with pelvic limbs more severely affected than thoracic limbs. Clinicopathological abnormalities included high serum activity of gamma-glutamyl transferase and hyperglycemia. All foals became recumbent (median, 3 days: [0-18 days]), which necessitated humane euthanasia (n = 11/12, 92%; the remaining case was found dead). Histological evaluation at postmortem revealed dilated myelin sheaths and digestion chambers within the spinal cord, most prominently in the dorsal spinocerebellar tracts. Pedigree analysis revealed a likely autosomal recessive mode of inheritance. Conclusions: EJSCA is a uniformly fatal, rapidly progressive, likely autosomal recessive neurological disease of QHs <1 month of age in North America that is etiologically distinct from other clinically similar neurological disorders. Once the causative variant for EJSCA is validated, carriers can be identified through genetic testing to inform breeding decisions.
© 2024 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine.
Publication Date: 2024-04-26 PubMed ID: 38669583DOI: 10.1111/jvim.17049Google Scholar: Lookup
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Summary
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This research describes a new neurological disorder found in juvenile Quarter Horses in North America known as Equine Juvenile Spinocerebellar Ataxia (EJSCA). By analysing the physical symptoms, genetic markers, and pedigrees of affected foals, the researchers determined that this fatal disease likely has an autosomal recessive mode of inheritance.
Study Approach and Methods
- For their data, the study involved twelve Quarter Horse foals that exhibited neurological problems, along with the dams of these foals.
- Genomic DNA was isolated from the subjects for genetic analysis and pedigrees were manually constructed to trace lineage and identify any possible inheritance patterns.
- The researchers carefully observed and documented the symptoms, progress, and outcomes of the neurological disease in the foals.
Key Findings
- All twelve foals experienced an acute onset of neurological deficits, including asymmetrical spinal ataxia, which affects the coordination of movement. The hind limbs were more severely impacted than the front ones.
- Clinical abnormalities noted from the foals included high serum activity of gamma-glutamyl transferase and hyperglycemia.
- Eventually, all the foals became recumbent, i.e., unable to stand, with most needing humane euthanisation. One of the foals was found dead.
- The researchers conducted postmortem histological evaluations, and found dilated myelin sheaths and digestion chambers prominently in the dorsal spinocerebellar tracts of the spinal cord.
- After constructing the pedigrees of the foals, the results indicated a likely pattern of autosomal recessive inheritance.
Conclusion and Implications
- The novel disease, termed Equine Juvenile Spinocerebellar Ataxia, is a critically fatal and quickly progressing neurological disease that is found in juvenile Quarter Horses in North America.
- This disease is distinct from other, similar neurologic disorders and seems to be inherited through an autosomal recessive pattern.
- The findings, once validated, may significantly help in early identification of carriers through genetic testing, thereby assisting in making informed decisions regarding horse breeding.
Cite This Article
APA
Willis AT, Dahlgren AR, Woolard KD, Ghosh S, Donnelly CG, de la Concha-Bermejillo A, Pacheco A, Watson KD, Berryhill E, Aleman M, Wensley F, Humphreys S, Whitehead AE, Goldsmith D, Chesen B, Ragsdale J, Tompkins JE, Nash R, Plunkett AH, Qualls HJ, Rodriguez K, Hochanadel D, Miller AD, Finno CJ.
(2024).
Clinicopathological and pedigree investigation of a novel spinocerebellar neurological disease in juvenile Quarter Horses in North America.
J Vet Intern Med.
https://doi.org/10.1111/jvim.17049 Publication
Researcher Affiliations
- Weatherford Equine Medical Center, Weatherford, Texas, USA.
- Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, California, USA.
- Department of Pathology, Microbiology and Immunology, School of Veterinary Medicine, University of California, Davis, California, USA.
- Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, California, USA.
- Department of Clinical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, New York, USA.
- Department of Pathology, Texas A&M Veterinary Diagnostic Laboratory, Texas A&M University System, College Station, Texas, USA.
- Carlson College of Veterinary Medicine, Oregon State University, Corvallis, Oregon, USA.
- California Animal Health and Food Safety Lab, School of Veterinary Medicine, University of California Davis, Davis, California, USA.
- Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California Davis, Davis, California, USA.
- Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California Davis, Davis, California, USA.
- Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California Davis, Davis, California, USA.
- Humphreys Veterinary Consulting, LLC, Salem, Oregon, USA.
- University of Calgary, Faculty of Veterinary Medicine, Calgary, Alberta, Canada.
- Diagnostic Services Unit, University of Calgary, Faculty of Veterinary Medicine, Calgary, Alberta, Canada.
- Equine Comprehensive Wellness, Santa Fe, New Mexico, USA.
- New Mexico Department of Agriculture, Veterinary Diagnostic Services, Albuquerque, New Mexico, USA.
- Mountain Veterinary Clinic, Tucumcari, New Mexico, USA.
- Ronald Nash, DVM, Magnolia, Arkansas, USA.
- Weatherford Equine Medical Center, Weatherford, Texas, USA.
- Weatherford Equine Medical Center, Weatherford, Texas, USA.
- Weatherford Equine Medical Center, Weatherford, Texas, USA.
- Weatherford Equine Medical Center, Weatherford, Texas, USA.
- Department of Population Medicine and Diagnostic Sciences, Section of Anatomic Pathology, Cornell University College of Veterinary Medicine, Ithaca, New York, USA.
- Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, California, USA.
Grant Funding
- L40TR001136 / NCATS NIH HHS
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