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Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination.
10 Arbeidsdager
Spesifikasjoner
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specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
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Chromosome | |
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Generell informasjon
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.
Kliniske egenskaper
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.
Tilleggsinformasjon
Referanser
Pubmed ID: 28620085
Omia ID: 2110