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Neonatal Ataxia (Coton du Tulear Type) Overview

Neonatal Ataxia (Coton du Tulear Type)
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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: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

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.

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,