Ataxia (cerebellar abiotrophy)
Progressive cerebellar abiotrophy (CA) has been described in several different breeds. The disorder is due to loss of neurons in the cortex of the cerebellum. The cerebellum is situated at the back of the skull and functions in coordinating voluntary movements. Accordingly, the main clinical sing in affected dogs is movement incoordination (ataxia). Affected dogs have difficulties in keeping up their balance and controlling the direction and force of their movements. This causes them to be clumsy, have wobbly walking, to fall over and bump into things. In addition, the affected dogs can suffer from intention tremor, which is a type of tremor that occurs when the dog concentrates, for instance during eating. CA is diagnosed through neurological and pathological examinations.
The age of onset and disease progression are show breed specific patterns, depending on the causative mutation and disease mechanism. Some breeds have a very early onset and quick progression but some breeds have a more late-onset disease with a slower rate of progression.
We have previously identified an autosomal recessive mutation that causes cerebellar abiotrophy in the Finnish Hound breed (Kyöstilä ym. 2012). The inheritance pattern of other canine CAs is also usually thought to be autosomal recessive, which means that the affected dog inherits the causative mutation from both parents.
All breeds that are suspected or confirmed to suffer from inherited CA with an unknown genetic cause. We are currently studying the disease in Lagotto Romagnolos, Australian Kelpies, Border Collies and Belgian Shepherds.
Which samples are needed
Samples are needed from affected dogs, as well as from their parents and healthy siblings.
Copies of diagnoses and other information needed
We would like to know the dogs’ case history; what are the symptoms, age of onset etc. If neurological or pathological examinations have been performed we would like to hear the results. You can also send us video clips from dogs with a suspected CA. We would also like to have pedigree information from the affected dogs.
Marjo Hytönen, marjo.hytonen(at)helsinki.fi.
Reference: K Kyöstilä, S Cizinauskas, EH Seppälä, E Suhonen, J Jeserevics, A Sukura, P Syrjä, H Lohi. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. PLoS Genet. 2012 Jun; 8(6):e1002759