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Spongy Degeneration SDCA2

US$ 75.00 RRP

US$ 50.00 (USER PRICE)

Description:

This is an inherited disorder neuro-degenerative disorders characterized by progressive degeneration of cerebellum and extracerebellar structures, these brain structure help coordinate movement. 

Affected puppies start to show symptoms around 4 weeks of age. Symptoms include generalized abnormal gait, seizures, and pacing as well as circling and central blindness. These clinical signs showed very rapid progression. Affected puppies may die during a seizure. 

Category:

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

Gene:

ATP1B2 gene

Variant Detected:

c.130_131ins227

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Mauri, N., Kleiter, M., Dietschi, E., Leschnik, M., Högler, S., Wiedmer, M., … Leeb, T. (2017). A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). G3: Genes|Genomes|Genetics, 7(8), 2729–2737. http://doi.org/10.1534/g3.117.043018

Associated Breed(s):

Belgian Groenendael Shepherd, Belgian Lakenois Shepherd, Belgian Malinois Shepherd, Belgian Tervueren Shepherd , Mixed Breed,