Cerebellar Ataxia (CA) - Italian Spinone*

Cerebellar ataxia in Italian Spinone is a progressive neurodegenerative disease affecting the cerebellum. The cerebellum is a part of the brain, important for controlling movement. Typical signs of the disease are hypermetria and hyperextension, uncoordinated movements (ataxia), impaired balance, head tremors and pendular nystagmus. The gait abnormalities usually start to appear at the age of four months and progress over time, so that affected dogs were unable to stand up and have to be euthanized at one year of age on average. The hereditary disease is caused by an expansion of a repetitive base sequence in the ITPR1 gene, which encodes for a calcium channel that is involved in a number of cellular processes including cell division, synaptic transmission and gene expression. With the help of the genetic test, the disease can be diagnosed at dogs that already show symptoms. Moreover, carriers of the disease can be reliably identified in order to prevent affected puppies by choosing an appropriate breeding partner.