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Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination and may ultimately be cause for euthanasia on humane grounds.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination and may ultimately be cause for euthanasia on humane grounds. This variant, known as Neonatal Cerebellar Ataxia (NCA) and sometimes as as Bandera’s Neonatal Ataxia (BNAt), is an autosomal recessive disease found in Coton de Tulear and Havanese dogs. It is caused by a mutation to the gene GRM1.
Kliniske egenskaper
Neurologic examination shows head titubation, intention tremors, severe gait and ocular ataxia at two weeks of age. Most puppies are unable to walk and use propulsive movements for goal-oriented activities. The puppies would fall to lateral recumbency with consecutive decerebellate paddling and posturing.
Tilleggsinformasjon
Fenotypisk beslektede ataksihunder kan ha en mutasjon i en annen genvariant, inkludert ATP1B2, CAPN1, ITPR1, KCNJ10, RAB24, SEL1L, SNX14 og SPTBN2.
Referanser
Pubmed ID: 21281350
Omia ID: 78