2016 UpdateBreed Health Group Press Release
Six of the seven Border Terrier Clubs have agreed to form a health group to consider the health status of the border terrier. In particular the group will consider the evidence associated with two conditions of immediate concern to the breed. Canine Epileptoid Cramping Syndrome is the first condition. It has been reported over several decades and has attracted limited veterinary research. The second condition is 'shaking puppy syndrome' a neurological illness recently anecdotally reported in very young puppies.
The group will seek to provide interim advice to breeders on both conditions, alongside developing a research plan to more clearly identify the clinical symptoms and epidemiology of both illnesses and to seek potential inheritance factors that may assist control or elimination of both conditions.
The group will also consider the general health status of the border terrier and comment on other diseases that could be listed for further research.
The members of the new group will be Dr Eddie Houston, veterinary surgeon and Chairman of the Border Terrier Club, Prof. Jeff Sampson, previously a geneticist at the Animal Health Trust and the Kennel Club and Dr Andrew Harbottle, a border terrier owner and a research scientist working in the field of biomarker discovery. Prof Steve Dean will attend the meetings as the Joint Clubs' Breed Health Co-ordinator."
Comment from the Southern Border Terrier Club Whilst the Southern Border Terrier Club are fully supportive of a Breed Health Group being set up the majority believe the only way to successfully progress such perceived serious health matters within the breed, namely Shaking Puppy Syndrome (SPS) and Canine Epileptoid Cramping Syndrome (CECS), is for all those involved in the group to be fully independent of the breed. At this stage they feel this is the only way to ensure full participation from the breed and obtain an unbiased view.
by the Border Terrier Breed Health Co-ordinator
As a follow up to earlier comments on SPS, I understand much has been said on social media and what follows is intended to provide Border Terrier owners with further advice and guidance on progress to date.
It would appear some people are claiming to hold significant amounts of data on litters where SPS has arisen. If this is correct, this is important information which needs to be made available to those with experience in identifying emerging inherited diseases. Furthermore those experts need to be engaged in the research and funded correctly or the progress will stall or fail.
Until this data is made widely available little can be done and I once again urge anybody who has direct information to release it without further delay. It is impossible for either myself as Breed Health Co-ordinator or the breed clubs themselves, to make statements regarding SPS if the condition is not being properly reported. As BHC I have received a few snippets through third party reports of affected litters but despite asking for further information this has not been forthcoming.
What do we know at this stage?
A published Case Study from the Ohio State University, Columbus reports upon four cases of tremors in young Border Terrier puppies. The information on these pups was reported by researchers and clinicians from Missouri and the Norwegian Veterinary School in Oslo. There is much useful and detailed pathology in the paper, as this work has been entirely based on post-mortem examinations of euthanased pups.
In summary the report suggests this is the first recorded appearance of a degenerative spongiform change of myelin in white matter of the brain, principally in the cerebellum, brainstem and spinal cord and to a lesser extent in the thalamus and cerebral hemispheres. This provides the descriptive term Spongiform Leuco-Encephalo-Myelopathy (now being shortened to the acronym SLEM). Myelin provides insulation around nerve fibres and any serious defect in the formation of the myelin sheath is likely to lead to poor transmission of nerve impulses and therefore neurological symptoms.
The symptoms reported include uncontrolled tremors and incoordination of hind limb movements which was consistent with the areas of the spinal cord that were affected. The pups were around three to four weeks of age when presented for euthanasia and the tremors were first noted when the pups started to walk. The Scandinavian pups were reported as becoming progressively worse over time.
The authors note the similarities and differences between this condition and other myelin sheath degenerations in other types of dog where perhaps the most well known is the shaking puppy condition in the Weimaraner. However it would appear pathologically the sites of the brain most affected and the microscopic appearance of this myelin degeneration in Border Terriers is unique.
As a common male ancestor was found in all four pups (bearing in mind one was from a US breeder, two were presented at Uppsala in Sweden and the fourth at the Oslo Vet School) a genetic mutation is considered possible. The US pup was male and the others were female.
As this condition has some similarities with a human condition (Canavan's disease), which is known to be an autosomal recessive gene mutation, the authors speculate how this might be a single gene autosomal recessive mutation leading to defective myelin production.
The Case Report was accepted for publication in late 2011 and therefore it is likely these pups were first presented in either 2010 or the early part of 2011.
There is much in this report that requires further work but of course the first question is the likelihood that the cases of SPS being seen in the UK are the same condition. Given the circumstances and the fact that the common ancestor was born in 1975 we can only hope that this is so. Of course other congenital myelin defects are reported in other breeds and this raises the possibility of another mutation. However the working assumption that we are dealing with the same inherited condition in the UK is valid for the time being, especially as the common ancestor from 1975 is likely to be a British dog although this is not stated.
Further work is apparently underway
Why has this condition taken so long to surface here in the UK? The fact that the common ancestor was born in 1975 does not in fact mean this was the first time the mutation occurred as this could have happened even further back in history. If we are fortunate enough to have a single mutation identified and it proves to be autosomal recessive, then we will have the basis for a useful gene test to assist us in dealing with this neurological condition. Until then we have to rely on more traditional methods.
Currently the hypothesis proposed suggests a single recessive gene defect. To produce affected pups requires that both parents will be carriers of the mutation. Their mating will theoretically produce 25% clinically affected pups; 50% carriers; and 25% clear. The carriers and the clear pups will be clinically unaffected. In addition both parents although carriers, will be clinically normal too.
This is consistent with the Ohio Case Report as littermates of the affected pups were clinically normal as were the parents. It would be very helpful to know how many litters are known for certain to have been affected in the UK along with their pedigrees and how many pups in each were clinically affected.
The distribution of carriers from the original source of the mutation would not have been known at that time, but further pedigree analysis might reveal how extensive the spread of the mutation may be within our breed in the UK. It is quite possible that the original mutation pre-dates the identified source of the problem in the Ohio report but even if this proves incorrect there is a very real chance of being able to control further spread of the mutation if pedigree analysis can be completed quite soon.
Clinically affected animals will have arisen as a result of in-breeding as this would bring together male and female carriers several generations onwards from the original source of the mutation. Specific advice can be generated for a breeder who is unfortunate enough to have a dog or bitch that proves to be a carrier and this does not necessarily mean that either or both must be removed from the gene pool. Sadly this a mistake many have made in other breeds in the past thus creating a significant reduction in the available gene pool and a greater risk from in-breeding as a result.
One aspect of this condition which can be viewed as encouraging is the onset of clinical signs of SLEM at around three weeks of age. This allows any action to be entirely in the breeder's hands and avoids new puppy owners buying pups that develop the problem. Healthy litter-mates can be sold with breeding endorsements which can be removed in cases where a suitable breeding strategy can be identified.
However, before any of this can be achieved breeders need to be able to recognise the symptoms. The onset of tremors in pups as they commence to walk is a primary feature. Tremors predominantly affect the hindquarters but also the head and fore-quarters too. The tremors cease when the puppy sleeps.
Eliminate other conditions
There are other conditions that may cause pups to shake or suffer tremors and these will need to be recognised to eliminate other causes. Infection or inflammation of the cerebellum, congenital defects in the development of the cerebellum and neonatal cerebellar ataxia are all possible alternative causes but these will all have a variety of differentiating clinical signs.
Finally we need to record the litters and collect the pedigree data. This is relatively easy to achieve and the Health Co-ordinator is the logical focal point for data collection.
the litter information including pedigree,
the number of pups affected,
a confirmation of the clinical diagnosis preferably by a veterinary surgeon and
if available, the pathology reports.
It is not too late to provide information about past litters as described above.
Keep calm and promote co-operation
The common sense approach is to remain calm and not seek to apportion blame. I doubt anybody intended to breed a litter with affected pups, and as both parents would be healthy there would be little evidence to help a breeder anticipate trouble. If the information is supplied we can arrange to assist the breed in future selection of breeding pairs to try and control the spread of this condition.
I would also recommend we resist speaking in riddles about any perceived historical sires that could be the source. I have had at least three suggested to me but these all post date the 1975 source mentioned in the Ohio report. So they may be carriers but they are probably not the root of the problem.
What is needed is more co-operation and informed, constructive advice and can we please cease the 'disgusted of Stoke Poges' type of on-line media formats.
How we find a solution to the challenges of social media is certainly not an issue for your Breed Health Co-ordinator, but it would be good if, as breed supporters, we could cease the cloak and dagger approach and deal in defensible facts that are made widely available.
In the interim the AKC Canine Health Foundation has granted some money to Missouri Vet School to conduct a search for the gene or genes involved and I will provide further updates on this work when information becomes available.
Finally I understand there has been some criticism that the Border Terrier breed clubs have supported the 'give a dog a genome' project, describing this as a historical venture. Well the source of the SLEM problem is historical and unravelling these historical factors will aid us in finding a potential solution. However the AHT genome project is about the future not the past, and readers will be interested to know that sequencing the entire genome of an affected dog is part of the genetic programme at Missouri. So the genome project is likely to be a significant part of the solution for breeding borders without SLEM as a risk.
If you wish to contact me I can be reached on 01628 782787 or firstname.lastname@example.org. I have been collecting confidential information for a very long time and I can assure you that I will keep personal details entirely confidential and will not seek to embarrass or offend anybody.
Prof Steve Dean BVetMed, MRCVS, DVR
Border Terrier Breed Health Co-ordinator
June 6, 2016
Breed Health Survey
Health Report 2016
The Border Terrier is a breed with relatively few health problems. It suffers from conditions at a level that would be predicted for any breed or type of dog and only exceeds the predicted level for neurological disorders. For some decades the issue of Canine Epileptoid Cramping Syndrome (CECS) has been highlighted and this remains an issue of concern.
This year we need to pause for a short period of time to wait for the completion of several pieces of work. There are four projects which will contribute to our understanding of the health status of our breed over the coming 12 months.
Late Onset Cataract.
There is a veterinary discussion about the future of Schedule B as part of the KC/BVA eye scheme. Schedule B is a list of eye conditions that do not form part of the formal eye testing scheme but are nonetheless 'under investigation'. Our breed is included on the list because of long standing concern (by certain eye specialists) that our breed may suffer from inherited late onset cataract.
It is not unusual to see elderly dogs with cataracts and these can arise for many reasons but these can be reduced to three categories: as a consequence of the ageing process; secondary to medical conditions (for example - Diabetes); or as a result of an abnormal physiology due to an inherited gene mutation.
As many dogs in our breed live well beyond twelve years of age, it is likely several will be seen by ophthalmologists with developing cataracts. Thus it is not difficult to understand why the breed was included on Schedule B.
Despite Schedule B being intended as list of conditions for further investigation, a positive finding during an eye test is not reported to the KC and thus it is not recorded on the KC database. It is impossible to determine which border terriers have been found to have late onset cataracts. Furthermore, to my knowledge, the condition has never been subjected to any formal 'further investigation'.
As a breed we have never taken much interest in late onset cataracts. Even if it were possible to prove they are simply a consequence of advancing years, there is no mechanism for removing a breed from list B. Furthermore the Kennel Club's 2004 breed health survey provided no strong evidence that eye conditions (including cataracts) are a significant problem for the breed.
Schedule B has always been something of an oddity within the official KC/BVA health scheme. There is a possibility that Schedule B will be discontinued but this still leaves the question about late onset cataracts.
an affliction that occurs late in life, at a time when many other conditions may be of more serious concern;
which is associated with progressive deterioration of sight, but is not a cause of pain or discomfort;
and, if needed, can be rectified by surgery,
is not necessarily a high priority for any breed.
Thus, the value of Schedule B is under discussion and we are waiting for further guidance from the Kennel Club during 2016. In my view cataract in advancing years is not major concern for the time being.
Canine Epileptoid Cramping Syndrome (CECS)
Investigation of CECS is a priority for our breed. The prevalence of CECS in our breed is unknown although the new KC Health Survey provides some information, but more of this shortly. The current evidence from our own breed health survey suggests the prevalence is likely to be low.
A study to identify the symptoms associated with the condition have revealed limited information sufficient to allow a group of neurologists to make some progress towards reliably identifying affected dogs. As a result they have suggested that some cases are linked to a gluten sensitivity and work is underway to explore the possibility that this is a significant factor in the development of clinical symptoms.
A positive outcome could provide the justification for a blood test to identify those dogs at risk and other biomarkers might provide an opportunity to investigate the presence of gene mutations linked with the condition. A suitable test for detecting affected dogs would be a significant step forward in controlling the prevalence of CECS however this must be tempered with a degree of caution. It is not yet established that gluten is the underlying cause and furthermore the search for associated relevant gene mutations may yet prove elusive - so we must be patient and wait for further progress.
Pedigree Breed Health Survey
The Kennel Club has repeated its pedigree breeds health survey during 2014/15 and the results have just been published. Analysis will take a little time but Old Age and Cancer remain the leading causes of death and the median age for the breed is reported as 12 years. This time the survey includes CECS as a specific diagnosis and the prevalence is reported as 1.6%.
At first glance it might appear that a border terrier's life expectancy has declined by two years but it is important to recognise that this report provides the median life expectancy whereas the 2005 report provided the average life expectancy. These are two very different figures and further analysis will be needed before we can determine whether there has been any change in the expected life span for our breed.
It is important to recognise the differences between this new 2015 survey and the previous one carried out 10 years ago. For example, the new survey includes many respondents who will be pet owners (the 2005 the survey was largely limited to dog breeders).
If you want a prediction it is likely the nothing much has changed (which our own breed survey continues to suggest) and the two conditions mentioned here are likely to remain the principle concerns for the future - nevertheless may I suggest we wait and see what further analysis reveals.
Finally it is pleasing to report that the seven breed clubs have joined forces to help fund the inclusion of the Border Terrier in the Animal Health Trust's "Give a dog a genome' project. The project is being led by the KC Genetics Centre based at the AHT and is supported by matched funding from the KC Charitable Trust. The aim is the identification of the entire genetic code (the genome) for each of 50 breeds during the next 12 months. This genome will be used as a comparative tool for investigating inherited diseases. It is not essential to find a border terrier free of all mutations (indeed that would be impossible) but having the entire sequence of genes available for a breed is a major tool for investigating inherited diseases, especially those that involve a number of genes acting in concert.
- Give a Dog a Genome | Animal Health Trust
Breed Health Co-ordinator
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