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.
© 2022. The Author(s).
Publication Date: 2022-11-26 PubMed ID: 36435777PubMed Central: PMC9701424DOI: 10.1186/s13028-022-00651-0Google Scholar: Lookup
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Summary
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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
Researcher Affiliations
- Department of Veterinary Clinical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Agrovej 8, 2630, Taastrup, Denmark.
- University Animal Hospital, Swedish University of Agricultural Sciences (SLU), Box 7040, 75007, Uppsala, Sweden.
- Raundal Equine Practice, Brusenvej 3, 7500, Holstebro, Denmark.
- 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.
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