Quick Summary
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Phenotype: Affected dogs are normal at birth and begin showing signs of incoordination and loss of balance at about 4 months of age. The disorder progresses with clinical signs worsening in the next few months. Affected puppies are often euthanized before they reach one year of age due to the inability to ambulate and poor quality of life.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal, CA = Cerebellar Ataxia
Breeds appropriate for testing: Spinone Italiano
Explanation of results:
• Dogs with N/N genotype are expected to not have Cerebellar Ataxia. They cannot transmit this CA allele to any of their offspring.
• Dogs with N/CA genotype have one copy of the CA allele and are expected to not have Cerebellar Ataxia but are carriers. They will transmit this CA allele to 50% of their offspring. Matings between two carriers of CA may, on average, produce 25% of puppies with Cerebellar Ataxia.
• Dogs with CA/CA genotypes are homozygous for the CA allele and will display signs of Cerebellar Ataxia.
$60 single test per animal
Note: The Cerebellar Ataxia in the Italian Spinone (CA) test requires specialized DNA extraction and testing methods that are not compatible with methods used for other dog genetic tests. For this reason, the option to add CA is not available in the "Add Test to Existing Sample" feature of your MyVGL account. If CA was not ordered with the initial sample submission and you wish to add it as a test later, a new sample will need to be submitted and a fee of $60 will apply to this new sample for CA testing.
Spinocerebellar ataxia (also known as cerebellar ataxia) is a progressive neurodegenerative disease that affects the Spinone Italiano. Affected puppies are normal at birth and begin showing signs of incoordination and loss of balance at about 4 months of age. Disorder progression occurs in the subsequent months, leading to a degree of dysfunction that causes dogs to be euthanized before one year of age.
Cerebellar ataxia (CA) in the Spinone Italiano is thought to be caused by an intronic GAA repeat expansion in the inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1) gene. The condition is inherited in an autosomal recessive manner, meaning that two copies of the CA allele are needed to develop the disorder.
Testing recommendations: DNA testing for cerebellar ataxia can determine the genetic status of dogs. Dogs with one copy of the CA variant are normal but are carriers. Matings between two carrier dogs may, on average, produce 25% of puppies with cerebellar ataxia.