Spongy Degeneration with Cerebellar Ataxia (KCNJ10)

Category:

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

Gene:

Potassium voltage-gated channel subfamily J member 10 (KCNJ10) on Chromosome 38

Variant Detected:

Base Substitution c.986T>C p.Leu329Pro

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. et al. A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1). (2017) G3 7(2);663-669.

Associated Breed(s):

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