Cerebellar Ataxia a Genetic Disease identified in the Spinoni Italiani

This year, an inherited disease which manifests itself as a Cerebellar Ataxia, or abnormal gait originating from a problem in a part of the brain, was identified in Spinoni. It was brought to light in Great Britain, when an eagerly awaited and carefully planned litter was born to Christine Bennet and Pat Wilkinson. Initially normal, the puppies began to have problems getting up at about 5 months, and by 11 months, after Christine's puppy had won Best in Show, the puppy was dead, and another no longer could walk and was euthanized. Largely through the sustained efforts of Ms. Wilkinson who was able to enlist the help of a well known geneticist, Dr Bruce Cattanach, and equally known neurologist at the Royal Veterinary College, Dr. Simon Wheeler, much has been identified about this disease through the study of the live animals and their post mortum tissue, as well as intense investigation of the pedigrees of affected animals. Their conclusions are these:

1. This particular Cerebellar Ataxia (henceforth in this article, "CA") is inherited as an autosomal recessive gene. This means that a puppy must have inherited a copy of the abnormal gene from both the sire and the dam for the puppy to display the disease. It means that both parents carried the gene, but did not suffer from the disease. A litter from a mating of two carriers will produce on average 25% puppies who will die of the disease, 50% who are well but are carriers and if mated will pass on the gene to 50% of their offspring, and 25% totally normal pups.

2. There have been 13 affected pups to date from 7 litters, all but three born in England, and those three born to the same parents in Denmark. Examination of these pedigrees has lead those studying the problem to conclude that Trusco Del Angelo del Summano del (at) Gaeston was the first identified carrier. A list and the pedigrees (4 generations) of all of the known carriers (based on their having affected puppies) was released to us by the British Spinoni Club (ISCGB) and is included below. Unfortunately one of those carriers, Gaeston Vin de Pero, was shipped to the United States, where he fathered about eight litters (an estimated 100 dogs).

3. There is no way to tell at this time if a dog is a carrier other than if when mated to a carrier it produces affected puppies. Mating a dog with unknown carrier status to a known carrier to see if affected pups are born is called a "test breeding" because the birth of affected pups would define the dog in question as a carrier. This method is fraught with difficulties and ethical issues: to gain a 90% confidence interval that your dog is not a carrier, a litter with a minimum of eleven unaffected pups and no affected pups must be born. To be 98% certain your female is not a carrier you must have 16 unaffected pups. * If your dog is a carrier you will probably have affected puppies and these cannot be identified until about 6 months or later (remember that "Best in Show" pup). There is then the problem of neutering before placement, socializing and catering to an entire litter until you can be assured you are not giving someone a pup that is going to die by the time it is one year old, etc.

However, as a result of research methods becoming available over the last year or so, a DNA test can be developed and by means of a blood or cheek swab sample tell you in a few days if the dog is a carrier, no matter what the dog's age. Thus breeding stock could be defined before a breeding, puppies cleared virtually at birth. The problem is that it takes 1-2 years to isolate the gene to develop the test assuming all the owners of related dogs are honest and forthcoming with information about pedigrees and health status of their animals. And it takes money to do the research involved in the gene isolation, lots of it, and most of it from ordinary people.

4. Symptoms of the disease: (Amended from Dr. Simon Wheeler's article, "Ataxia in the Spinone," and private communications with Pat Wilkinson.) Initially, pups are normal. Then, at about four to six months, they begin to have problems getting up when lying down and may compensate by pressing against a wall to support their rear legs, which are affected first. This is most obvious indoors, for outdoors, initially, they romp normally. They begin to have exaggerated movement, such as a "high stepping gait, " "a wobbly gait," and can drag their feet. They do not have other symptoms such as seizures, or pain, but retain their happy spirit while "seeming confused as to why they cannot get up." There are many diseases that can have these symptoms, but few in young dogs.

5. Known Carriers of Cerebellar Ataxia in Spinoni as released by the ISCGB

4 generation pedigrees of the above dogs may be obtained from SCOA Health Committee by sending a SASE to RFD 133 Webber Rd. Haydenville , Ma, 01039.

6. It is not known if the mutation occurred in Trusco, or if he is the first identified carrier in which case carriers could exist in Italy as well. To date there have been no reports coming from Italy of dogs with this cerebellar ataxia, but it is possible there have been cases that were not recognized as such.

7. It is exceedingly important that any puppies suspected of being affected be reported to the Health Committee as soon as the diagnosis is suspected and before any thoughts of euthanasia. That way the owner and the owner's vet might be referred to the appropriate knowledgeable person(s) to assist in making the diagnosis, and to enable some good to come from a horrific situation.

8. The British will be carrying the weight of the isolation of the gene for Cerebellar Ataxia, as to date most of the affected puppies have been born there, and none in the US (to date.) However we are still involved, and at risk, and need to help fund the research which comes from private donations if we are going to have a test available to breeders and puppy buyers so that no puppy need to suffer from this problem. Please think of any means of raising funds, and send any donations to

9. ISCGB (Italian Spinone Club of Great Britain) Research Fund,
10. c/o Kathleen Kerr,
11. RFD 133 Webber Rd.
12. Haydenville, Ma. 01039,

and I will forward it to Pat Wilkinson in Great Britain who is now the chair of a special Cerebellar Ataxia subcommittee, or you can mail any contributions directly to her at 28 Park Lane, Heighington, Lincoln LN41RF England.

We need to all work on this together so that we can breed and buy puppies knowing they will be free of this disease.

Kathleen Kerr, Chairman, SCOA Breed Health Committee

This Page was last updated on 03/08/05