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.