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Neonatal Ataxia (Coton du Tulear Type)

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Test Overview:

Neonatal cerebellar Ataxia is an early onset, inherited neurologic disease affecting Coton de Tulears. Symptoms present shortly after birth when normal littermates develop coordinated movement. In affected dogs the Cerebellum does not function properly and pups do not develop the balance necessary to stand or walk normally. Affected puppies tend to scoot on their stomachs to move and often fall to their side and paddle their legs. These pups usually develop tremors as well. While the disease does not appear to progress in severity after 4 months of age, puppies are usually euthanized due to a poor quality of life.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

Glutamate metabotropic receptor 1 (GRM1) on Chromosome 1

Variant Detected:

Nucleotide Insertion c.2331ins[AAGACCCGCAACGTA8TA39]

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Zeng R, et al. A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera's neonatal ataxia. (2011) J Vet Intern Med, 25;267-272.

Associated Breed(s):

Coton De Tulear, Mixed Breed,

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