€57,48 €47,50 hors TVA
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.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 1 |
| Mutation | c.2331_2332ins62bp |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | BNAt; NCA |
Informations générales
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.
Caractéristiques cliniques
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.
Additional Information
Les chiens d’ataxies phénotypiquement liées pourraient avoir une mutation dans une autre variante de gène, y compris ATP1B2, CAPN1, ITPR1, KCNJ10, RAB24, SEL1L, SNX14 et SPTBN2.
Références
Pubmed ID: 21281350
Year published: 2011
Omia ID: 78
Omia variant ID: 693