Spongy Degeneration SDCA2*

Category:

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

Gene:

ATP1B2 gene

Variant Detected:

c.130_131ins227

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

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