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Spongy Degeneration with Cerebellar Ataxia (KCNJ10)
$50.00 (RRP)
$50.00 (MEMBER PRICE)
Description:
This is a severe neurodegenerative disorder with an early onset. The disease is caused by a mutation in the KCNJ10 gene which encodes a potassium channel, which is expressed in the central nervous system (CNS), eye, inner ear, and kidney. These channels play a crucial role in modulation of neuronal cells’ membrane potential and neuron cell excitation.
Affected puppies start to display symptoms already before 2 months of age. Puppies show wide-based ataxic gait, which is more prominent in the hind limbs. Movement is accompanied with stumbling, staggering, intention tremor, bunny hopping, balance loss and falling. Exercise or stress may induce episodes of muscle spasms together with an aggravation of cerebellar symptoms. Affected puppies have seizures and rapid progression of clinical signs. Affected puppies are usually euthanized due to the severity of the symptoms.
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,
