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Equine Cerebellar Abiotrophy (CA) is a hereditary neurological disorder that leads to the progressive loss of neurons in the cerebellum, the region of the brain responsible for coordination and balance.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informations générales
Equine Cerebellar Abiotrophy (CA) is a hereditary neurological disorder that leads to the progressive loss of neurons in the cerebellum, the region of the brain responsible for coordination and balance. CA is caused by an autosomal recessive mutation located in exon 4 of the TOE1 gene. This mutation exerts a regulatory effect on the nearby MUTYH gene, which encodes the mutY DNA glycosylase enzyme. The condition is most commonly found in Arabian horses and Arabian crossbreeds.
Caractéristiques cliniques
Clinical signs of CA usually appear between six weeks and four months of age. Affected foals often display intention tremors of the head, ataxia (uncoordinated movement), and other neurological deficits. Additional symptoms include exaggerated or paddling motion of the forelimbs, a wide-based stance, and an absent menace response. These foals may also be easily startled, prone to falling, and may struggle or be unable to stand after lying down.
Additional Information
Références
Pubmed ID: 21126570
Omia ID: 175