Neonatal Ataxia

Bandera’s Neonatal Ataxia (BNAt)

 

Gene: GRM1

Transmission: Autosomal, recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Insertion, GRM1 gene; c.2331_2332 ins.62pb (truncated retrotransposon)

Medical system: Nervous

Breed: Coton de Tulear, Havanese

Age of onset of symptoms: A few days after birth

Neonatal ataxia is a developmental problem with the functioning of the cerebellum, the portion of the brain responsible for the coordination of muscle movements.  A few days after birth, affected puppies begin to show signs of tremors, balance problems and an inability to walk.  Even if the clinical signs do not deteriorate the quality of life of the affected puppy is compromised to the point that it is usually euthanized for humanitarian reasons.

 

References:

OMIA link: [0078-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Stee K, Van Poucke M, Lowrie M, et al. (2023) Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med. [pubmed/37341581]

Zeng R, Farias FHG, Johnson GS, McKay SD, et al. (2011) A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera’s neonatal ataxia. J Bet Intern Med 25:267-272. [pubmed/21281350]

Coates JR, O’Brien DP, Kline KL, et al. (2002) Neonatal cerebellar ataxia in Coton de Tulear dogs. J Vet Intern Med. 16(6):680-9. [pubmed/12465765]