Cerebellar abiotrophy / NCCD (SPTBN2-related) - Beagle

What does this test assess?

This genetic test analyses the SPTBN2 c.5855_5862del variant in the Beagle. The condition is also known as cerebellar abiotrophy, Neonatal Cortical Cerebellar Abiotrophy, NCCD, neonatal cerebellar cortical degeneration and spinocerebellar ataxia.

The SPTBN2 gene encodes beta-III spectrin, a protein important for nerve cells in the cerebellum. The tested deletion disrupts the protein and, when present in two copies, causes a severe neurological developmental disorder.

What does this condition mean?

The cerebellum controls balance, coordination and fine motor control. Affected Beagle puppies can be unable to learn to walk normally, fall to either side, show a wide or unsteady stance, tremors, abnormal eye movements and often an absent menace response. The condition becomes important during the period when puppies normally start moving and walking.

Inheritance and result

The trait is inherited as autosomal recessive. Carriers have one copy of the variant and can appear healthy; dogs with two copies are genetically affected for this SPTBN2 variant.

• N/N means the dog does not carry the tested deletion.
• N/del means the dog is a carrier and can pass the variant to offspring.
• del/del means the dog has two copies of the deletion and is genetically affected.

Practical value of this test

This test gives breeders a direct tool to prevent a severe neurological disorder in Beagles. Because carriers are usually not recognisable by appearance or behaviour, DNA testing is the clearest way to reveal risk in a breeding line.

• Breeders can identify carriers before planning a mating.
• The result helps avoid carrier-to-carrier combinations and prevents affected puppies.
• Carrier dogs can remain useful in breeding when paired with a clear partner.
• The test supports transparency in purchase, sale and exchange of breeding animals.