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Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 5 |
| Mutation | c.130_131ins[LT796559.1:g.50_276] |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | SDCA2 |
Informations générales
Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination. This variant of the disease, known as Spongy Degeneration with Cerebellar Ataxia (SDCA2), occurs in the Belgian Shepherd. It is caused by a recessive mutation to the gene ATP1B2.
Caractéristiques cliniques
Affected puppies begin presenting with ataxic gait (a loss of coordination while walking) at about four weeks of age. Further symptoms can include pacing, circling, central blindness and seizures. The disease progresses rapidly, and euthanasia on humane grounds is typically necessary within weeks.
Additional Information
Références
Pubmed ID: 28620085
Year published: 2017
Omia ID: 2110
Omia variant ID: 734