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2011 National Specialty Show RESULTS

USING RELATIVE RISK ANALYSIS AND OPEN HEALTH REGISTRIES TO PLAN MATINGS

This article is important for breeders who are planning a breeding and would like to compute the odds of the proposed mating producing CA carriers. Until we have a genetic test for carriers of CA, relative risk analysis is our only tool for assessing the likelihood of producing dogs affected with CA. Dr. Bell can also assist you in the relative risk pedigree analysis. (Please see "Requesting a Risk Analysis".)

Important points covered:

1. With a simple autosomal recessive genetic disorder, pedigree analysis can be used to compute relative risk factors for carrier and affected status.
2. The objective risk factor for a parent of an affected dog is 100% chance of being a carrier. A full sibling of a carrier has a 50% chance of being a carrier. A non-affected offspring of a carrier with no affected littermates has a 50% chance of being a carrier. A non-affected full sibling to an affected dog has a 67% chance of being a carrier. Notice that these percentages refer to carriers, not affected dogs. The chance of producing an affected dog would be even less.
3. It is erroneous to add risk factors for each parent of proven carriers. Only one parent of a carrier needs to pass on the defective gene and we cannot determine which parent is a carrier. Assigning carrier risk to both parents of a carrier also incorrectly places selective pressure against dogs based on their matings, and not their proven genetic background.

AUTOSOMAL RECESSIVE INHERITANCE

This article will be helpful in understanding how CA is inherited. Breeders especially are urged to study it carefully.

Autosomal = a pair of like chromosomes.
Recessive = two copies of a gene must be present before a dog is affected by the disease or trait, thus a carrier would have one copy of the gene to pass on to offspring but would not actually have the disease or trait.

Important points covered:
1. Simple autosomal recessive genetic conditions are inherited only from parents that are carriers for the recessive gene or are themselves affected by the condition.
2. Both affected and carrier parents can pass the recessive gene on to their offspring.
3. Both parents of an affected animal must be carriers of the recessive gene.
4. Breeding carriers will not always produce an affected offspring.
5. Clear bred to Clear will only produce Clear offspring

CA – DR. BELL & OESCA

These articles are helpful to get an overview of the problems we face, how we began, and how far we have come in working together.

Some of the important points:
1. CA is not a single kennel problem
2. CA is an autosomal recessive gene
3. The closest common ancestor in pedigrees is not necessarily a carrier
4. To keep our gene pool diverse, we should not discard dogs from breeding programs simply because they are related to a dog affected with CA.

CEREBELLAR ABIOTROPHY (CA) SYMPTOMS

This short article gives a description of the typical gait of a dog affected with CA.

CEREBELLAR ABIOTROPHY IN THE OLD ENGLISH SHEEPDOG: Its Cause And Diagnosis

This article is a great resource for understanding CA in our breed. A must read before you view the CA registry.

Important points covered are:
1. CA is caused by a degeneration of cells in the cerebellum of the brain.
2. CA causes uncoordinated movements of the limbs.
3. CA is not painful and need not shorten a dog's life.
4. CA can be diagnosed through clinical observation, examination of the cerebellum after death, and an MRI in advanced cases.
5. CA is caused by an autosomal recessive gene, which means both parents must carry the gene to produce an affected dog.

Special Message to OESCA from Dr. Bell

May 2008

I have been asked about the advisability of differentiating clinically diagnosed versus necropsy diagnosed Old English Sheepdogs with CA on the OESCA Open CA Registry.  It has been my recommendation to parent clubs not to differentiate between objectively diagnosed dogs in open registries.  In the past, this recommendation has been accepted by many parent clubs in their open registries, including the Scottish Terrier Club of America, Gordon Setter Club of America, and Ibizan Hound Club of the US.

As clinicians, Dr. de Lahunta, and I are confident of the clinical diagnostic protocol.  There has never been a case of a dog labeled BY US with cerebellar abiotrophy that has not been confirmed with a pathological diagnosis when the dog has gone to necropsy.  This includes Old English Sheepdogs, Gordon Setters, and Scottish Terriers diagnosed with CA.  Dr. Olby has also reviewed the submitted videos of clinically diagnosed CA dogs, and concurs with their diagnoses.  We stand on the validity of the clinical diagnoses, and welcome the efforts of anyone who questions a diagnosis with further diagnostic testing (MRI, etc.).

There are other Old English Sheepdogs that are claimed to have CA.  However, we are not willing to make a clinical diagnosis and add them to the list without their fulfilling the clinical diagnostic protocol.  As always, I am available to those owners and breeders to establish a valid clinical diagnosis for their dogs.

What is the purpose of differentiating between dogs with clinical diagnoses and pathological diagnoses?  This plays into the hands of the naysayers that some dogs are called affected, but are not really affected.  Breeders need to deal with the reality of the dogs that have been determined to be affected with CA.  It is not fair to an owner or a breeder to be pressured to put their beloved family member down to gain a pathological diagnosis for the purpose of the registry, when the track record of the validity of the clinical diagnosis is sound.

Again, I am available to anyone to consult on possible cases of cerebellar abiotrophy in dogs that they own or have bred.

Sincerely,

Jerold S Bell, DVM
Clinical Associate Professor of Genetics
Department of Clinical Sciences
Tufts Cummings School of Veterinary Medicine
jerold.bell@tufts.edu
(860) 749-8348
Fax: (860) 749-4760