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Neuroaxonal Dystrophy (Discovered in Spanish Water Dog)

Neuroaxonal Dystrophy is a neurodegenerative disorder. Signs of this disease include movement abnormalities, abnormal vocalization, incontinence, and behavioral changes.

Key Signs

Progressive neurological signs, Gait abnormalities, Behavioral deficits, Incontinence

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with NAD

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about NAD

Clinical signs appear between six and eleven months of age. The signs are progressive in nature and include gait abnormalities; behavioral changes such as dullness, nervousness, or abnormal vocalization; incontinence; and uncontrolled defecation. Affected dogs may also show compulsory pacing, visual deficits, nystagmus, head tilt and neurological deficits, predominantly related to sensory localization. Neurological examination may show a mild head tilt, generalized cerebellar ataxia, hypermetria of the thoracic limbs, a depressed patellar reflex, proprioceptive deficits, decreased menace, visual deficits, positional nystagmus, and decreased muscle tone. A characteristic pathologic feature for the disease is the development of spheroids in the grey matter of the cerebral hemispheres, the cerebellum, the brain stem, and in the sensory pathways of the spinal cord.

Treatment is supportive care, however, due to the progressive nature of the condition, clinical signs typically lead to euthanasia before two years of age on welfare grounds.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the NAD mutation can be safely bred with a clear dog with no copies of the NAD mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the NAD mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the NAD mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene TECPR2
Variant C>T
Chromosome 8
Coordinate 70,433,320

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Hahn, K., Rohdin, C., Jagannathan, V., Wohlsein, P., Baumgärtner, W., Seehusen, F., … Jäderlund, K. H. (2015). TECPR2 associated neuroaxonal dystrophy in Spanish water dogs. PLoS ONE, 10(11), 1–18. View the article