Analyze Diet
Acta veterinaria Scandinavica2022; 64(1); 31; doi: 10.1186/s13028-022-00651-0

Cerebellar abiotrophy in an Icelandic horse.

Abstract: Cerebellar abiotrophy (CA) is an uncommon hereditary neurodegenerative disorder affecting the cerebellar Purkinje cells. Equine CA has been reported in several breeds, but a genetic etiology has only been confirmed in the Arabian breed, where CA is caused by an autosomal recessive mutation. Methods: Clinical and histological findings consistent with CA are reported in an 8.5-month-old Icelandic filly. The filly showed a perceived sudden onset of marked head tremor, incoordination, ataxia, lack of menace response and a broad-based stance. Cerebrospinal fluid, hematological and biochemical findings were all within the normal range, ruling out several differential diagnoses. Post mortem histopathological examination revealed Purkinje cell degeneration accompanied by astrogliosis. Assessment of the filly's pedigree revealed that its parents shared a common ancestor. Conclusions: To the authors' knowledge, this is the first report of CA in the Icelandic breed. The identification of a common parental ancestor makes autosomal recessive inheritance of CA in this filly possible, but this would need to be confirmed by further studies. Veterinarians and breeders working with Icelandic horses should be aware of this condition and report suspected cases in order to support genetic investigation.
Publication Date: 2022-11-26 PubMed ID: 36435777PubMed Central: PMC9701424DOI: 10.1186/s13028-022-00651-0Google Scholar: Lookup
The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
  • Case Reports
  • Journal Article

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The research article centers on the discovery and documentation of a rare neurodegenerative disorder called Cerebellar abiotrophy (CA) in an Icelandic horse. The condition which has often been reported in other breeds was revealed to be potentially genetic, as the filly’s parents shared a common ancestor.

Study Design and Methodology

  • The subject of the research was an 8.5-month-old Icelandic filly that exhibited symptoms consistent with Cerebellar abiotrophy (CA). These included head tremor, uncoordinated movements, a broad-based stance, and a lack of the menace response, which signals an awareness of threat and potential harm.
  • Various tests were conducted on the horse to accurately diagnose its condition. This involved analysis of cerebrospinal fluid, hematological as well as biochemical findings. These were all within the normal range but the symptoms prompted further investigation.
  • Definitive evidence of CA was provided by a post-mortem histopathological examination which revealed the degeneration of Purkinje cells in the cerebellum accompanied by astrogliosis, a process where the brain responds to neural injury.
  • Investigation into the filly’s pedigree showed that her parents had a common ancestor which points towards a genetic cause of the disease, specifically, autosomal recessive inheritance.

Key Findings and Conclusion

  • This research presented the first-ever recorded instance of Cerebellar abiotrophy (CA) in the Icelandic horse breed.
  • The results suggest a possible genetic cause of the condition due to the existence of a common ancestor between the parents of the filly. However, a genetic etiology for CA has only previously been confirmed in Arabian horses; thus, further research is required to confirm these results in Icelandic horses.
  • Based on these findings, the authors encourage veterinarians and breeders working with Icelandic horses to be vigilant for signs of CA and to report suspected cases. This will advance research into the genetic nature of this neurodegenerative disorder in the breed.

Cite This Article

APA
Hansen S, Olsen E, Raundal M, Agerholm JS. (2022). Cerebellar abiotrophy in an Icelandic horse. Acta Vet Scand, 64(1), 31. https://doi.org/10.1186/s13028-022-00651-0

Publication

ISSN: 1751-0147
NlmUniqueID: 0370400
Country: England
Language: English
Volume: 64
Issue: 1
Pages: 31

Researcher Affiliations

Hansen, Sanni
  • Department of Veterinary Clinical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Agrovej 8, 2630, Taastrup, Denmark.
Olsen, Emil
  • University Animal Hospital, Swedish University of Agricultural Sciences (SLU), Box 7040, 75007, Uppsala, Sweden.
Raundal, Marie
  • Raundal Equine Practice, Brusenvej 3, 7500, Holstebro, Denmark.
Agerholm, Jørgen Steen
  • Department of Veterinary Clinical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Agrovej 8, 2630, Taastrup, Denmark. jager@sund.ku.dk.

MeSH Terms

  • Horses
  • Animals
  • Female
  • Humans
  • Iceland
  • Neurodegenerative Diseases / veterinary
  • Ataxia / veterinary
  • Pedigree
  • Veterinarians
  • Horse Diseases / diagnosis

Conflict of Interest Statement

JSA is editor-in-chief of Acta Veterinaria Scandinavia, but has not in any way been involved in or interacted with the journal’s review process or editorial decision making. JSA was blinded to the review process. The authors declare that they have no competing interests.

References

This article includes 17 references
  1. Palmer AC, Blakemore WF, Cook WR, Platt H, Whitwell KE. Cerebellar hypoplasia and degeneration in the young Arab horse: clinical and neuropathological features.. Vet Rec 1973;93:62–66.
    doi: 10.1136/vr.93.3.62pubmed: 4748678google scholar: lookup
  2. Blanco A, Moyano R, Vivo J, Flores-Acuña R, Molina A, Blanco C. Purkinje cell apoptosis in Arabian horses with cerebellar abiotrophy.. J Vet Med A Physiol Pathol Clin Med 2006;53:286–287.
  3. Edwards L, Finno CJ. Genetics of equine neurologic disease.. Vet Clin North Am Equine Pract 2020;36:255–272.
    doi: 10.1016/j.cveq.2020.03.006pubmed: 32654782google scholar: lookup
  4. Maxie MG, Youssef S. Nervous System.. In: Maxie MG, editor. Jubb, Kennedy and Palmer’s pathology of domestic animals. 5. Edinburgh: Saunders Elsevier; 2007. pp. 310–312.
  5. Brault LS, Famula TR, Penedo MC. Inheritance of cerebellar abiotrophy in Arabians.. Amer J Vet Res 2011;72:940–944.
    doi: 10.2460/ajvr.72.7.940pubmed: 21728855google scholar: lookup
  6. Scott EY, Woolard KD, Finno CJ, Penedo MCT, Murray JD. Variation in MUTYH expression in Arabian horses with cerebellar abiotrophy.. Brain Res 2018;1678:330–336.
  7. Brault LS, Penedo MCT. The frequency of the equine cerebellar abiotrophy mutation in non-Arabian horse breeds.. Equine Vet J 2011;43:727–731.
  8. LeGonidec G, Daynes P, Kuberski T, Hartley WJ. A neurologic disease of horses in New Caledonia.. Aust Vet J 1981;57:194–195.
  9. Koch P, Fischer H. Die Oldenburger Fohlenataxie als Erbkrankheit.. Tierärztl Umschau 1950;5:317–320.
  10. Fox J, Duncan R, Friday P, Klein B, Scarratt W. Cerebello-olivary and lateral (accessory) cuneate degeneration in a juvenile American Miniature horse.. Vet Pathol 2000;37:271–274.
    doi: 10.1354/vp.37-3-271pubmed: 10810993google scholar: lookup
  11. Björck G, Everz KE, Hansen HJ, Henricson B. Congenital cerebellar ataxia in the Gotland pony breed.. Zentralbl Veterinarmed A 1973;20:341–354.
  12. Henneke DR, Potter GD, Kreider JL, Yeater BF. Relationship between condition score, physical measurements and body fat percentage in mares.. Equine Vet J 1983;15:371–372.
  13. Brault LS, Cooper CA, Famula TR, Murray JD, Penedo MC. Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH.. Genomics 2011;97:121–129.
    doi: 10.1016/j.ygeno.2010.11.006pubmed: 21126570google scholar: lookup
  14. Beatty MT, Leipold HW, Cash W, DeBowes R. Cerebellar disease in Arabian horses.. Proc Am Ass Equine Practnrs 1986;31:241–255.
  15. Foley A, Grady J, Almes K, Patton K, Davis E. Cerebellar abiotrophy in a 6-year-old Arabian mare.. Equine Vet Educ 2011;23:130–134.
  16. Cavalleri JMV, Metzger J, Hellige M, Lampe V, Stuckenschneider K, Tipold A. Morphometric magnetic resonance imaging and genetic testing in cerebellar abiotrophy in Arabian horses.. BMC Vet Res 2013;9:105.
    doi: 10.1186/1746-6148-9-105pmc: PMC3671216pubmed: 23702154google scholar: lookup
  17. Campana MG, Stock F, Benecke N, Barker GWW, Seetah K, Bower MA. Genetic stability in the Icelandic horse breed.. Anim Genet 2012;43:447–449.