Cerebellar Ataxia

Cerebellar Ataxia (or CA), also known as spinocerebellar ataxia when the spine is involved, is a neurological disorder that attacks young Spinone as well as other breeds. Spinoni were found to have a specific DNA linkage, which became known as ITPR1, and for which an effective test was developed.

The information below was provided by Pat Fendley and was last updated in 1999. It is being retained for historic purposes and there are updates posted to the right.

DO, however, read the information to better understand and appreciate the importance of breeding responsibly.

In the spring of 1998, a serious disease affecting the Spinone was acknowledged in Great Britain. This news rocked the Spinone world for though there were those that knew about this problem, it was kept rather quiet. At this time there is still very limited knowledge available about this disease due to the small number of cases.

One geneticist in England, after studying the pedigrees, feels that this is a hereditary disease with a recessive mode of inheritance. The disease was traced to a dog imported from Italy, Trusco Dell Angelo Del Summano Del Gaesten, whose impact on the breed in Great Britain borders on the legendary. The Italian Spinone Club of Great Britain (ISCGB) is actively working with the Royal Veterinary College in an attempt to gather the necessary information and samples to isolate a DNA marker for this disease.

Let me emphasize here that there is no way that your Spinone can “catch” CA. It is a genetic disorder that can only manifest itself if both parents are carriers of the disease. It is also a self-limiting disease in that the affected dogs do not live to an age to reproduce. If your Spinone is past one year of age and has not developed any signs of CA, it will not.

I wish to thank Pat Wilkinson, who, on behalf of the Health Sub Committee for the ISCGB, has given her permission to share what information we have with the public. As more information is made available, I will update this page to include that information. With caution on the part of everyone breeding Spinone, I feel confident that we will be able to overcome this disease.

~ Pat Fendley

Please click on the following to learn more about Cerebellar Ataxia. (pdf files)

Editor’s Note: Without the dedication and willingness of breeders such as Pat, this disease could still an untestable issue in the breed. To read a more personal slant on the story of CA in Spinone … go the Mals About Spinone Italiano website, scroll down and click the Cerebellar Ataxia link. Much of that page is the same information as above, however, at the bottom, you’ll see a note about Pat’s personal experience with CA. Grab a box of tissues and read the two linked pages.

Per a study published in 2014:

Cases are rare, with no new cases reported since the launch of a linkage-based DNA test at the Animal Health Trust in 2008, enabling breeders to identify heterozygous carriers in their breeding lines.” ~ Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion inĀ ITPR1
View full article.

Note: The Animal Health Trust closed in July 2020. The current recommended testing center is: TBD.

Inheritance Diagram