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Neonatal Ataxia (BNAt)
| Acronym: | BNAt |
| Gene: | GRM1 |
| Mutation: | 62-bp exon 8 insertion |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Neonatal ataxia is an autosomal recessive disease of Coton de Tulear dogs. The ataxia of affected dogs becomes apparent as soon as their littermates develop coordinated movements. The affected puppies exhibit titubation of the head and intention tremors and most are unable to walk. They have delayed righting reflexes and severely decreased or absent proprioceptive positioning and show fine vertical ocular tremors at rest. There is no progression or remission of clinical signs. Ultrastructural abnormalities can be observed in the molecular layer of the cerebellum.
Neonatal Ataxia is inherited as a recessive trait. That means that for a pup to be affected, it must have two copies of the defective gene. For this to happen, both parents must be carriers. They each have one copy of the defective gene that they passed on to the unlucky pup. They do not show signs of the disease because they also have one copy of the normal gene which is enough for their brains to function normally. About 10% of Coton de Tulear are carriers of the genetic mutation responsible for the disease.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Zeng, R., Farias, F.H.G., Johnson, G.S., McKay, S.D., Schnabel, R.D., Decker, J.E., Taylor, J.F., Mann, C.S., Katz, M.L., Johnson, G.C., et al. (2011). A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera’s neonatal ataxia. J. Vet. Intern. Med. 25, 267–272.