Peer-reviewed veterinary case report
Cerebellar abiotrophy in an Icelandic horse.
- Journal:
- Acta veterinaria Scandinavica
- Year:
- 2022
- Authors:
- Hansen, Sanni et al.
- Affiliation:
- Department of Veterinary Clinical Sciences
- Species:
- horse
Plain-English summary
A case was reported involving an 8.5-month-old female Icelandic horse that showed signs of cerebellar abiotrophy, which is a rare genetic condition affecting the brain's ability to coordinate movement. The filly had noticeable head tremors, trouble with balance, and did not respond normally to visual threats. Tests on her blood and spinal fluid came back normal, helping to rule out other potential issues. A closer examination after her passing showed damage to specific brain cells, and it was noted that her parents were related, suggesting a genetic link. This is the first known case of this condition in Icelandic horses, and further research is needed to confirm its hereditary nature.
Abstract
BACKGROUND: 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. CASE PRESENTATION: 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.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/36435777/