Gall Bladder/Biliary Mucocoele
We have received a letter from Mark Dunning, a veterinary specialist working for the Willows Veterinary Group and a Clinical Associate Professor in Small Animal Internal Medicine at the School of Veterinary Medicine and Science, University of Nottingham. He and some colleagues have an interest in Gall Bladder Mucocoele (GBM) in Border Terriers. His letter is self explanatory and below is a link to the on-line questionnaire mentioned in his letter.
More info on the Border Terrier Health Group
***DNA Test Kits Available***
The Animal Health Trust has supplied the link for obtaining test kits for the DNA Test for SLEM/Shaking Puppy Syndrome in Border Terriers.
It is: https://www.ahtdnatesting.co.uk/tes…/shaking-puppy-syndrome/
If Members of the 7 Border Terrier breed clubs use the discount code below when they get to the end of registering their application/s, they will receive an introductory discounted price of £36. This discount is only available till the 31st of October 2017. Only one type of discount offer can be applied per order.
The code to be entered is: 6584EKUJ23
Please strongly consider testing Any Border Terrier you intend breeding from.
Shaking Puppy Syndrome (SPS) October 2017
A DNA Test for Shaking Puppy Spongiform LeucoEncephaloMyelopathy (SLEM) in Border Terriers
From the time they begin to support weight and attempt to walk, Border Terriers with SLEM show severe tremors predominantly in the hind limbs creating a characteristic side-to-side shaking sometimes called “rump shaking” or “rocking horse” movements. Most affected pups die at a young age or are euthanised due to quality of life issues, although with extensive supportive care, in some rare cases affected pups can improve with time. Collaborating researchers at the University of Missouri, at the Animal Health Trust, and at Wisdom Health have identified the gene harbouring the mutation responsible for this disease.
The disease is a recessive trait, which means that affected puppies have inherited a defective copy of the gene from the sire and a defective copy of the gene from the dam.
The researchers have developed a DNA test that identifies which dogs are genetically normal (with 2 normal copies of the gene), which dogs are otherwise healthy carriers of the disease (with one normal gene copy and one mutant gene copy), and which dogs suffer from SLEM (with 2 mutant gene copies).
Border Terrier breeders wishing to avoid producing affected puppies in future litters can use the DNA test to ensure that at least one member of a breeding pair has a normal DNA test result. In addition, the DNA test can be used to confirm a diagnosis of SLEM.
On Monday October 9th DNA testing will become available from the University of Missouri (http://www.caninegeneticdiseases.net/ and the Animal Health Trust (http://www.ahtdnatesting.co.uk).
Testing through a partnership with OFA (www.OFA.org , click the “ORDER DNA TESTS” link in left sidebar) should be available after mid-October.
Orders placed through OFA use a cheek swab & barcoded card to collect DNA, and testing is done by U of MO.
The OFA staff will send a kit and complete instructions for all orders.
See the websites for further details.
The key individuals involved in this research include Dr. Ana Kolicheski and Dr. Gary Johnson (University of Missouri), Dr. Louise Burmeister (Animal Health Trust), and Dr. Oliver Forman (Wisdom Health).
This research was possible because of support from the AKC Canine Health Foundation with funds from Border Terrier Club of America Donor Advised Fund, Wisdom Health, and the Kennel Club Charitable Trust. In addition, Marg Pough, Health Chair of the Border Terrier Club of America, deserves special credit for providing the researchers with key samples and persistent encouragement.
Please see below to read a Comment from Steve Dean, Breed Health Co-ordinator
Shaking Puppy Syndrome (SPS)
DNA Test for SLEM (Shaking Puppy Syndrome) is now available It is good news that the research in America has discovered a recessive gene that causes SLEM. It is even better news that the test will be available from the Animal Health Trust from Monday. I am informed it will cost £48 including VAT.
Details will be available on the AHT website www.ahtdnatesting.co.uk.
They will require a cheek swab or an EDTA blood sample to carry out the test. Suitable swabs can be obtained from the AHT - they usually like a donation towards the cost.
Included with the press announcement are two articles from Dr Jerold Bell in the USA. Dr Bell comments on how best to apply the test results from DNA tests and I hope this information will be considered and used effectively.
It is very important that as a breed we do not increase the prevalence of Epilepsy and CECS by over zealous attempts to rid the breed of the mutation behind SLEM/SPS. Now we have a gene test no puppy need ever be affected by this condition but removal of the gene can be done over time with little restriction upon current breeding plans. We are fortunate the work that started in the USA some years ago has produced a gene test relatively quickly. As we breed to avoid producing affected pups we can now focus research efforts on CECS, epilepsy and any other inherited condition that may emerge in our breed in the future. We will start to gather test results in advance of the test becoming an Official test recognised by the KC (which will take a little time). Anyone who has their dog tested can provide a copy of the test result and we will create a list of Border Terrier results so we can provide a list for those seeking information. This is a voluntary provision of data but it will make it easier for those looking particularly for a stud dog. A closing word of caution: it is highly likely the gene discovered will deliver an effective test for SLEM but on occasions testing reveals either another condition with similar symptoms but a different gene mutation or the same condition with another gene mutation producing similar pathology. If any breeder still produces a shaking puppy despite using the advice given in Jerold Bell’s comments then please contact the Breed Health Coordinator with the information.
BORDER TERRIER BREED HEALTH GROUP NOTES ON MEETING AT PARK HOTEL, YORK ON SUNDAY APRIL 9, 2017 AT 10.30 A.M.
Present: Professor Steve Dean (SD) – in the Chair Dr Andrew Harbottle (AH) Dr Eddie Houston (EH) Professor Jeff Sampson (JS) In Attendance:Ronnie Irving (RI)
1. Terms of Reference: The following terms of reference were agreed for the Group – to be circulated to the seven breed clubs.
To assist the Border Terrier Breed Health Co-ordinator in his task of considering health issues in the breed.
These tasks are defined as inter alia:
1. Facilitating the communication and collection of data on the health of the breed.
2. Collaborating with the Kennel Club on any health concerns the breed may have
3. Acting as a conduit between the Scientists, the Kennel Club and the Breed Clubs.
4. Providing relevant advice and support to owners and breeders through the breed clubs.
2. Formal Protocols: Drafts were proposed.
For SPS - Discussion about the variability of the clinical condition and its time of onset raised some concerns about the variability of the phenotype. The pathology reported in the primary paper describes the changes to the myelin as novel and it is possible this is not a single gene defect or that environmental factors as yet unknown might influence the timing of the onset of symptoms. There was general agreement on the importance to discuss this with the neurologists and pathologists as it was critical to understand the condition. The post mortem soon after death or euthanasia would be important to confirm the presence of SLEM in reported cases. It was agreed that formal protocols should be produced for people who think they are encountering either CECS or SPS – to advise on exactly what they and their veterinary surgeons should do so that the maximum amount of accurate information can be gathered from each case.If puppies do survive or some pups in the litter do not show symptoms of SLEM it will be important for breeders to correctly place KC endorsements to prevent breeding without due consideration of the risk of SLEM in the offspring. A note for breeders on how to proceed with their breeding plans in the face of the production of an affected litter. In particular those who own dogs that are descendants from dogs identified as carriers will need specific advice.CECS - Protocol will be similar but a fact sheet on the condition will be needed to help the diagnosis of the condition by the general practitioner before referral to a neurologist. CECS not urgent cases so less need for regional network. Discuss need to see case or if video is sufficient. Important data gathering exercise from local GP and owner. Once confirmed it is important that cases are reported to the BHC along with a pedigree. We need to establish considerable security around diagnosis and the role of the specialist is important. Self diagnosis is unreliable for any pedigree/genetic assessment. DNA samples will need to go with diagnosis to the AHT from the neurologist alongside clinical evidence. Parental DNA will be more challenging to obtain given the age of the dogs when symptoms are first seen. It was agreed to construct a medical questionnaire for the owners of CECS cases to aid data collection and diagnosis.The current work (ref Mark Lowrie) attempting to develop a suitable blood test for detecting gluten sensitivity was discussed and its potential for the future diagnosis of cases of CECS. It was agreed that the draft protocols should be sent to and discussed with the specialists/researchers/geneticists involved in the conditions before final publication.In the case of SPS it was agreed that because of the need for post mortem work to be carried out promptly, and in order to help breeders to get puppies reasonably easily to the veterinary centre conducting the work, the researching neurologists should be asked to contact and nominate say four or five centres across the UK at which the work could be carried out.
3. Questionnaire for Owners of CECS Sufferers: It was agreed that AH should produce a questionnaire for completion by owners of CECS sufferers. This would enable an early and detailed record of symptoms and seizure incidents to be produced for use by the veterinary surgeon, the referral practice and future researchers.4. Estimated Prevalence of Conditions: Reliable and verified statistics on the conditions were hard to come by. SD confirmed that he as Breed Health Co-ordinator had the following for each condition.CECS – around 25 cases where he had reasonable confidence in the accuracy of the diagnoses and around another 25 where the information available did not give enough confidence in the diagnosis.It was agreed that SD should contact the RVC to tap into the statistics on the condition from VetCompass the Companion Animal Surveillance System. In the past Vet Compass has reported the Border Terrier as highly associated with epilepsy but it is not always simple to split seizure cases into CECS, epilepsy or other causes (e.g. brain tumours).SPS – a number of informally reported/rumoured cases but only three where adequately documented information has been received.VetCompass could also be asked for SPS prevalence but was unlikely to have much hard data given the small numbers reported. Approaching the veterinary neurologists may prove more helpful.Prevalence figures would enable a better prioritisation of the illnesses that Border Terriers might suffer and thus direct any research more effectively.5. Pedigree Research: It was hoped that further pedigree analysis could be conducted on the information to be provided at the afternoon meeting with breeders. At present the data available on SPS is not sufficient to determine the mode of inheritance. Not likely however to be a dominant gene but more data would be required to accurately determine the mode of inheritance.It was felt that the best way to keep breeders abreast of developments was by creating open registers of dogs which had been confirmed as cases through veterinary diagnosis for the conditions, listing affected dogs and their parents.In order to obtain maximum ‘buy-in’ from breeders it was felt that perhaps these registers should start off ‘closed’ but with permission from the breeders that later the data may be shared openly when enough cases had been accumulated.JS agreed to be the keeper of those registers and also agreed to draft some words describing the process to be employed so that the breed can work towards an open register for both of the conditions.Guidance would be needed for dog breeders on how to interpret any information available to avoid an unreasonable reduction in the gene pool. The risks of over reaction is high. Furthermore, the very existence of a breed register for SPS or CECS will raise expectations that good advice can be provided as a result and this is not likely unless extensive, good information is available. However, some useful guidance to breeders with specific lines could be given.6. Meeting with Specialists/Researchers: It was agreed that the Group should approach the KC Breed Health Department to ask for their help in organising a meeting to obtain up to date information on the conditions and to establish proposed priorities for the future.
Attendees to include: o Kennel Club Health Department
o Border Terrier Breed Health Group
o Glasgow Vet School (contact: Dr Rodrigo Gutierrez Quintana)
o Liverpool Vet School (contact: Dr Daniel Sanchez-Masian)
o AHT Neurologist
o AHT Geneticist
o Mark Lowrie
It was agreed that SD should start off advising the potential veterinary/scientific participants and RI should contact the KC Health Department to establish possible mechanics of the meeting such as dates, venue etc .
7. Animal Health Trust Issues: RI declared an interest as a Trustee of AHT and SD declared he was Chairman of the KCCT a major funder of the AHT. It was agreed that the BHG should approach the AHT with the suggestion that work on genome sequencing should be accelerated for both CECS and SPS by adding to the programme both a CECS affected case and also a control Border Terrier for use in processing results.
Costs of such acceleration to be established in discussion with AHT. AH felt from his experience that the added work should not be very costly.
SD and RI to contact Cathryn Mellersh at the AHT to arrange a meeting to discuss this and any other key issues.(Post meeting - In the afternoon session £16k + was confirmed as the sum of money donated to the AHT and not specifically allocated to any particular project)
8. Overseas Researchers and Breed Groups: It was agreed that contact with overseas researchers was best left to the research community itself although the BHG should clearly be kept informed of any international progress.It was however felt that contact should be made by RI/SD with breed health groups in Scandinavia and the USA so that up to date information can be passed from one group to another and so that members of the UK BHG can be kept up to date on International research.
9. Preparing Breeders for emergence of future test: It was felt that the BHG, in stressing that time horizons for solutions may be quite far off, should also start preparing breeders for the various options that may be put into effect by the Kennel Club and the breed clubs, in the event of the successful development of some screening tests.RI/SD to approach the KC Health Department (probably Tom Lewis or Katy Evans) to ask if they have any policy literature or guidance on the subject, for adaptation by the BHG and for issue to the breed clubs. We would intend to draw on experience of other breed initiatives.
10. Fact Sheets for Owners and the Veterinary Profession: It was agreed that fact sheets should be prepared by the BHG on the two conditions for use by owners and veterinary surgeons when suspected cases are encountered.These could be disseminated in various ways including via
• Breed Club Websites
• Various appropriate Facebook Groups
• Veterinary Record and Vet Times etc
• KC System of providing information to new Border Terrier owners. It was agreed that draft fact sheets should be prepared for CECS by EH and for SPS by SD.
11. Fundraising: It was decided to recommend to Breed Clubs that the setting up of a fund for furthering understanding of SPS and CECS would be helpful and, as far as possible, should leave the deployment of such funds to the BHG and thus the ring-fencing of funds should be avoided as far as possible. SD and RI to contact clubs accordingly.
12. Relationship with Breed ClubsIt was agreed that communication on the activities of the BHG needed to be distributed as widely as possible. It was also agreed that the Breed Clubs should be asked to be the conduit for spreading as much information as possible to the Border Terrier owning public.It was also agreed that Breed Clubs should be asked to nominate one person each to attend prearranged meetings with the BHG to be updated on issues and to provide feedback to the BH Group. (RI to progress)(Afternote: Those who attended the afternoon meeting suggested that such representatives ought perhaps to be asked also to act as a liaison with owners of dogs with the two conditions, and to help counsel them. They also suggested the development of a specific Border Terrier Health Website that might be used by a wider audience than those who currently consult breed club websites.)
13. Other issues: On examination of the other conditions listed in the most recent Breed Health Survey, it was felt that the BHG should concentrate its efforts on the two breed specific issues, and meantime leave other work on issues such as Cushing’s Disease and Cancers to the wider canine research community.AH agreed to prepare a summary of Border Terrier health surveys.
14. Afternoon Meeting: The meeting was Chaired by RI and was attended by all members of the BHG and by Janet Lee, Michelle Barnet, Linda Coleman, Geraldine Cove-Print, Jan Gale and her husband, Stewart McPherson, and Andrew Mooney. Some of the visiting individuals were at pains to make it clear that they were not part of any ‘group’.
The main subjects for discussion were the two conditions CECS and Shaking Puppy Syndrome (SPS). The pedigrees of 19 SPS litters were handed over to the Breed Health Group along with information on various aspects of CECS, these were the pedigrees made available at the recent February meeting organised by Janet Lee.
The meeting recognised the tremendous amount of work that had been put into the issues particularly by Janet Lee, Jan Gale and Michelle Barnett in both assembling information about the conditions and affected dogs, and also in the carrying out fundraising efforts that had so far collected over £16,000 for use by the Animal Health Trust for work on the two conditions. The main concerns expressed by those present centred around criticism that the Breed Health Co-ordinator had not been responsive enough to those reporting the conditions in the past and not enough had been done by the Breed Health Group to draw attention to and tackle the conditions. There was a lack of trust that matters would be moved forward, and as to whether the Breed Health Co-ordinator and Breed Health Group would get to grips with the issues. Some believed that this lack of trust would mean a reluctance to report issues to the BHG. The Chairman stressed that we should all concentrate on the future rather that the past, and on unity rather than divisiveness. Clearly the BHC and the BHG would have to work on building back that trust, in the interest of the breed.RI dismissed suggestions that the BHC should be replaced, and he made it clear that the appointments of the BHC and members of the BHG were matters for the breed clubs and not for individuals.
Those present also put forward a number of very positive suggestions for the future including:
• Appointment by each breed club of a liaison person per club to talk to concerned dog owners and provide links between such owners and the BHG.
• Creation of a Breed Health Website
• Use of funds to sequence further cases of SPS and to include genome sequencing of CECS cases.
• Better future communication of BHG meetings, advice and decisions.
The BHG undertook to take these suggestions on board.
The meeting closed a 5.20 p,m.
SD • contact RVC to tap into the statistics on conditions from VetCompass• advise potential veterinary/scientific participants of need for meeting with researchers • draft fact sheet on SPS
AH • draft questionnaire for owners of CECS sufferers
• draft summary of BT health surveys.
EH • draft fact sheet on CECS
JS • draft words describing the process to be employed so that the breed can work towards an open register for both conditions.
RI • Contact KC Health Department to establish possible mechanics of the meeting with researchers - such as dates, venue • ask Breed Clubs to nominate one person each to attend regular meetings
SD/RI • contact Cathryn Mellersh at AHT to arrange a meeting to discuss sequencing acceleration and any other key issues. • contact breed health groups in Scandinavia and the USA to share information• approach the KC Health Department for policy literature or guidance on control schemes• recommend to Breed Clubs setting up of unrestricted funds for research on the conditions
Give a Dog a Genome Project - April 2017 Update Message sent to Steve Dean, BHC :
“I would once again like to thank you and the Border Terrier community for participating in Give a Dog a Genome (GDG). Please find attached a GDG update.
Thank you for your incredible support of and participation in Give a Dog a Genome. If you have any questions or concerns please email me on email@example.com.
Yours faithfully,Louise and the rest of the Give a Dog a Genome Team”Please click here to view the PDF
Please click here for download copy of the report from the Chairman (Mr Ronnie Irving) of the Breed Health Meetings which took place on Sunday 9 April 2017.
Breed Health Meetings
The planned meeting between the Border Terrier Breed Health Group (BHG) and representatives of those who had organised the meeting of Border Terrier enthusiasts on February 19th, took place in York last weekend on the afternoon of Sunday 9th April. The meeting had been suggested by Ronnie Irving in an attempt to create a unified position within the breed on two health conditions and to give those involved the opportunity to hand over such data as they were able to, and to express their concerns to the BHG.The meeting was Chaired by Ronnie Irving and was attended by Professor Steve Dean (Breed Health Co-ordinator (BHC)) and the three members of the BHG elected by the breed clubs Dr Andrew Harbottle, Dr Eddie Houston and Professor Jeff Sampson. Those providing input from those who had been involved in organising the previous meeting were Janet Lee, Michelle Barnet, Linda Coleman, Geraldine Cove-Print, Jan Gale and her husband, Stewart McPherson, and Andrew Mooney.The main subjects for discussion were the two conditions CECS and Shaking Puppy Syndrome (SPS). The pedigrees of 19 SPS litters were handed over to the Breed Health Group along with information on various aspects of CECS. The meeting recognised the tremendous amount of work that had been put into the issues particularly by Janet Lee, Jan Gale and Michelle Barnett in both assembling information about the conditions and affected dogs, and also in the carrying out fundraising efforts that had so far collected over £16,000 for use by the Animal Health Trust for work on the two conditions.The main concerns expressed by those present centred around criticism that the Breed Health Co-ordinator had not been responsive enough to those reporting the conditions in the past and not enough had been done by the Breed Health Group to draw attention to and tackle the conditions. There was a lack of trust that matters would be moved forward, and as to whether the Breed Health Co-ordinator and Breed Health Group would get to grips with the issues. Some believed that this lack of trust would mean a reluctance to report issues to the BHG. The Chairman stressed that we should all concentrate on the future rather that the past, and on unity rather than divisiveness. Clearly the BHC and the BHG would have to work on building back that trust, in the interest of the breed.The Chairman dismissed suggestions that the BHC should be replaced, and he made it clear that the appointments of the BHC and members of the BHG were matters for the breed clubs and not for individuals. Those present also put forward a number of very positive suggestions for the future including:• Creation of a Breed Health Website• Appointment by each breed club of a liaison person per club to talk to concerned dog owners and provide links between such owners and the BHG.• Use of funds to sequence further cases of SPS and to include genome sequencing of CECS cases.• Better future communication of BHG issues.
BREED HEALTH GROUP MEETING
Earlier in the day a meeting of the Border Terrier Breed Health Group itself had taken place at which a number of key issues were agreed. A separate note giving further information on these decisions will be issued shortly but in the meantime here is a summary of the various items discussed:• Terms of reference for the BHG• Protocols for people who think their dogs are affected by either CECS or SPS – to advise on exactly what they should do so that the maximum amount of accurate information can be gathered from each case.• Production of a Questionnaire for owners of CECS sufferers, to facilitate diagnosis and early recording of seizures and the activities surrounding these.• Forward plans on estimating condition prevalences• Pedigree analysis and development of firstly closed, then open registers• Meetings with researchers to get up to date information on progress and clarify future plans.• Possible acceleration of sequencing projects for both SPS and CECS• Plans to prepare the breed’s supporters for the type of breeding recommendations and/or controls likely if definitive tests can be developed.• Preparation of fact sheets on each condition for use by breed clubs, owners and the veterinary profession.• Policies for breed clubs and others to continue the development of fundraising for a Breed Health Fund.• Ways to improve future communications with breed clubs and others• Regular meetings with breed club representatives A more detailed report on the BHG Meeting will be produced in due course.
Border Terrier Health Report 2016. (published Jan 7th 2017)
This is possibly the most challenging report on Border Terrier health I have written since I started out in Border Terriers some 35 years or more ago. Usually I can be fairly reassuring about the health of the breed but it is currently under greater risk than it has ever been and club members, who form the backbone of the breed, need to be aware of this.
You may think this is because of Canine Epileptoid Cramping Syndrome (CECS) or Shaking Puppy Syndrome (SPS) and in one respect this is true but not perhaps for the reasons the reader might anticipate. Both conditions exist in the breed but the prevalence is arguable. Anecdotal reporting is constant but despite this it would appear from factual reporting that annual clinical cases in the UK, of both conditions, are small in number although under-reporting is likely.
The chief risk to future health of our breed rather perversely arises from the actions of what I assume are a well meaning group within the breed who appear to have gathered reports about both conditions and are offering advice to anybody who wishes to listen. For reasons that are not entirely transparent (to me at least) these reports have not been shared with myself as breed health co-ordinator, nor has the clinical detail of the cases been made available. This informal approach relies upon social media exchanges and internet listings of assumed affected dogs along with unverified analysis of unknown pedigree information by non-professionals. Sadly it is the advice that emanates from these sources that offers a fundamental threat to the future health of our breed.
I will explain this further to justify my warning. A recommendation to avoid breeding from supposed affected lines is a flawed concept unless there is very sound verified evidence which identifies affected dogs, carriers of assumed mutations and dogs established as clear of either clinical illness or genetic mutation. Simplistic advice without this critical review cannot be relied upon and does not appear to take into account current knowledge of genetics and, most importantly, it has the capacity to greatly unnecessarily reduce the gene pool for the breed. It is this risk to the genetic diversity of our breed that causes me to write this report for at this time a catastrophic and unnecessary reduction in the gene pool risks the emergence of further, as yet unrecognised, inherited conditions in the Border Terrier.
All dogs carry mutations in their genome and where these are injurious to health, in-breeding is the most likely route which brings these genes together to cause clinical illness. I will deal with a more acceptable approach to dealing with an inherited condition shortly but first let me elaborate upon some of the historical aspects associated with the emergence of both CECS and SPS.
Perhaps the most important factor in the recent development of both conditions is an appalling lack of co-operation within the breed. Claims that either I or the breed clubs were not interested in these illnesses are at best misplaced and potentially malign. We have had a mechanism in place for reporting health concerns (the Border Terrier Breed Health Survey) which has been available on club websites for at least two decades. There have also been two Kennel Club surveys carried out during the same period of time.
There has been very little reporting of either CECS or SPS to the breed health co-ordinator despite the fact that everybody who approached me with anecdotal information was asked to provide the information but largely failed to do so. This remains the case today. Excuses that the current questionnaire does not readily cater for the unweaned puppy suffering from SPS have been noted and will be remedied but this does not excuse the fact that no hard information has been provided until recently and what we do have has been very challenging to obtain.
It is the hard clinical evidence that forms the core of any investigation into the causes of a known or emerging disease. The ability to accurately diagnose a condition is the single most effective skill in planning for a programme of research for both CECS and SPS. Once a diagnosis can be securely made then the next important step is the collection of the data centrally for analysis alongside DNA samples from normal and affected dogs for genetic research. However collecting DNA samples and reports is valueless unless they are linked to strong clinical evidence and accurate data.
Despite much effort over the years, the work to establish the causes of CECS suffer from a distinct lack of progress worldwide. This should signal to us that what has been done has largely been ineffective. As breed health co-ordinator I cannot advise the breed unless those involved engage with the system put in place. However, in the face of criticism on social media the breed clubs have agreed to the formation of a small group of experienced volunteers with the necessary scientific skills to attempt to improve the situation.
It is important to realise no group will make progress without hard facts and anybody who believes they have reliable information is openly invited to contribute by supplying the information they hold on either CECS or SPS.
Canine Epileptoid Cramping Syndrome
I have been involved in the consideration of CECS since it was first reported by a German veterinary surgeon, who was a personal friend and fellow breeder of border terriers. From the outset it was my view, after viewing the first video evidence, that this appeared to be a neurological disease. At this time others were pursuing theories of a form of muscle cramping or a bowel or liver condition and were attempting to link diagnosis to bile acids tests. It is now generally accepted that this condition affects the Central Nervous System (CNS) and the symptomatic involvement of other organs is as a direct result of the influence of the CNS.
The very name we use for the condition is descriptive of the symptoms. However, some cases may not show seizures, or stomach or muscle cramps, which must make some owners very confused when the diagnosis is made. Furthermore most veterinary surgeons remain largely unaware of the features of this condition which adds further doubt to the accuracy of some diagnoses.
Over time, personal enquiry has revealed that CECS has probably been in the breed and other terriers for a very long time although it was limited in its clinical distribution by careful selection of breeding stock by the breeders of the past. The fact that it was first reported in Germany, the Netherlands, Scandinavia and the USA reflects this. The breed in these countries was based largely on a few imported breed lines and, most importantly, these lines were significantly in-bred in those regions.
It is inbreeding that most successfully brings recessive and polygenic (multiple gene) conditions to the clinical foreground and the use of popular sires and repetitive line-breeding in the UK are likely to be the major contributing factors to the emergence of CECS in the UK. Nevertheless, in my view it is destructive and lacks logic to blame the breeders of the original stock or the current breeders for producing clinical cases, as the emergence has not been well reported nor has it been accurately documented and thus advice so far has lacked a strong scientific base and has largely been in the hands of a small minority of lay-persons.
This remains the same today despite the efforts of several well meaning individuals over several decades. The chief issue revolves around the belief that CECS is inherited by relatively simple means and furthermore it makes the huge assumption that we are able to accurately diagnose CECS. Nothing could be further from the truth and this remains the situation despite some recent progress.
This may seem strange given the plethora of video clips available on-line but to the professional eye many of these videos show different symptoms and this was confirmed by the study by Garosi and others when an attempt was made to characterise the symptoms of CECS based upon historical cases. There was some commonality in symptoms in most cases but the study served only to formalise our limited capacity to confirm a diagnosis. As a result, diagnosis is often achieved by excluding other causes and this is unlikely to provide accurate data. We will have to work with this for the time being.
Current work by an associate of Laurent Garosi (Mark Lowri), is focused upon exploring the theory that the biochemical basis for the clinical signs of CECS has something to do with the metabolism of the protein gluten. Many owners of suspected CECS cases report that dietary change was able to improve their dog’s symptoms and Mark Lowri has ascertained that in some cases it is the removal of gluten from the diet that appears to have a beneficial effect on the appearance of clinical symptoms. I will stress this information remains theoretical. Some dogs do not respond to the exclusion of gluten in their diet and this may be because of access to gluten from other sources; an inaccurate diagnosis of CECS; or the possibility that gluten is only involved in some forms of CECS.
Shaking Puppy Syndrome (SPS)
The situation for SPS is different to that of CECS. This condition has been characterised in the scientific press and a significant pathological change has been identified in the brain which is best described as poor myelination of the nerve pathways in specific regions of the brain, especially those associated with co-ordination of movement. Thus unlike CECS there is the potential to confirm a diagnosis albeit only at post mortem following death of the affected puppy.
Once again here is a condition that has been widely commented on in social media but apart from anecdotal reports very little hard clinical evidence has emerged since the single published report in 2012. The original scientific report emanated from the study of four young puppies in the USA and Scandinavia and based on these four pups the authors speculated this could be caused by a single recessive gene.
If this is the case then we can be very hopeful of finding the mutation and developing a diagnostic test. However studies have been going on in the USA since this report was published and as yet no tangible progress has been made and this should be a stern warning that there may be a flaw in our assumptions for this condition. This is not a criticism of the research work to date but is supportive of my view that we need to be very careful to ensure the information we are working with is as accurate as possible. Thus anecdotal evidence is helpful to an extent but is not hugely contributory to any scientific study of the condition.
For example, based upon the anecdotal evidence it has been suggested that the condition appears characteristically in 2-3 week old puppies as they started to walk and the symptoms have been described as being typical of SPS. However the most recent case report in the UK, supported by confirmatory post mortem evidence, was from a puppy that did not show symptoms of incoordination until some weeks after it was sold (i.e.10-12 weeks of age).
This alone should make us very concerned about what we are looking at, for if the original theories of this condition are correct then this puppy is exceptional and yet the pathology appears to be very similar. Does this mean we are dealing with two forms of the condition, a different condition entirely or does the manifestation of the clinical signs depend upon environmental factors or the expression of another mutated gene (or genes)?
On social media I have been criticised for suggesting the evidence for both conditions is largely anecdotal. However this is an accurate statement and furthermore it follows that although I believe both conditions exist, the majority of the case reports I have seen lack robust supporting diagnostic evidence. If we wish to change this situation we need to commence collecting data effectively and that is why a small group of people** have been assembled by the breed clubs to work together to offer advice and recommendations to the breed in seeking solutions to aid our control of these conditions.
The proposed direction.
It has taken some 40-50 years to get to this point for the Border Terrier and we cannot expect to resolve these problems with simple short term breeding plans. Indeed current advice has the potential to make matters worse for the breed. It will take time, research and money to find a lasting solutions and in the interim there is a real danger of more inherited diseases emerging if the breed does not work together.
These conditions are of international concern among owners and breeders of Border Terriers. We therefore need to cooperate with our international colleagues. We need to bring together those in the science community who have an interest in assisting the breed and we need to plan for the next steps toward a solution.
Thus the current work is aimed at bringing together a core of scientists, including veterinary specialists, with an expressed interest, to form the basis of a research group in the UK.
We are reviewing progress internationally and will ensure there is communication between the different teams around the globe (principally in Europe and the USA) and the UK group.
Working with these experts we will produce a protocol for the diagnosis of each illness, the collection of data from confirmed clinical cases and arrange for independent expert analysis of pedigrees.
In parallel, there will be a published procedure for collecting and storing DNA from both clinically affected dogs, assumed carriers and dogs appearing to be from lines free of each condition with the intent to enable genetic research to identify suitable biological markers to aid breeders in the future selection of breeding pairs.
Despite comments to the contrary on social media, it is in fact the Genome Project at the Animal Health Trust (AHT) that offers our best chance of identifying the genetic factors for both conditions and if successful this could lead to a genetic test for each disease. However we need to keep a perspective on the likelihood of success, for despite many years of activity we are no further forward in understanding the inheritance of CECS and the simple recessive inheritance proposed for SPS is yet to be confirmed.
Consideration is being given to arranging a meeting in the first half of 2017 to bring those interested from the breed and the potential research groups together to discuss the challenge we face and agree the way forward.
The UK Border Terrier Clubs are not alone in their concern and the fact that other countries have failed to identify the inheritance and the gene mutations associated with each illness is a cause for concern. This is strongly suggestive of a flaw in the research projects or the original theories behind the research. Thus we need to ensure we do not simply re-invent the wheel as we go forward.
Finally research costs money and eventually there will be a need to create a fund for this work and use this to seek support from other grant sources but we cannot identify these costs until we understand what the entire research project might be.
Steve Dean Breed Health Coordinator
**The Breed Health Group comprises:
Professor Steve Dean BVetMed, MRCVS,
DVR Dr Eddie Houston BVMS, MRCVS
Dr Andrew Harbottle PhD
Professor Jeff Sampson BSc., DPhil
Give a Dog a Genome 2016
All seven Border Terrier Clubs have joined together to answer the Animal Health Trust's call for breeds to join them in their quest to "Give a Dog a Genome." For details of this scheme, see the Frequently Asked Questions at: http://www.aht.org.uk/skins/Default/pdfs/Give_a_Dog_a_Genome_FAQs.pdfThe seven Border Terrier Clubs have jointly funded the £1,000 required to have one of our breed included in the genome sequencing.The Kennel Club Charitable Trust has pledged another £1,000 towards the £2,000 cost to have the sequencing carried out for each of the first 50 breeds that sign up to this, so the KCCT will be donating £50,000 in total this year towards the scheme.Our Joint Clubs' cheque for £1,000 has been sent to the Animal Health Trust and receipt of it has been acknowledged; the breed is listed at number 5 on the list of participating breeds: http://www.aht.org.uk/cms-display/genetics_gdg_participating_breeds.html
Canine Epileptoid Cramping Syndrome (CECS) and Shaking Puppy Syndrome (SPS)
Various reports on social media have raised the profile of two neurological problems in the Border Terrier. What follows are comments to aid those who may either have a dog with one of these problems or may be worried about the future health of the breed. If you wish to help find solutions to either of these issues then it would be best to work through the Breed Clubs and in particular myself as Breed Health Co-ordinator as it is important we speak to the research community and veterinary profession through one channel. Fund raising is going on but at this time please be aware this is not with the sanction of any breed club. Funding is frankly not the issue at this moment in time.
As Breed Health Co-ordinator I discussed the CECS problem with two groups. A major step forward has been achieved in searching for the genetic markers for CECS by the Breed Clubs' supporting the sequencing of the Border Terrier genome at the AHT. This alongside genome sequencing for around 75 other breeds will provide a useful platform for locating mutations related to neurological function. However this is a step forward but not yet a solution. We will need to agree the top three conditions in our breed and this is in progress. Once this work is completed we can expect progress towards identifying any genetic mutations of health significance.
There are four steps towards good research into inherited illnesses.
1. Accurate diagnosis of an affected dogâ€™s condition. This is best achieved in the first instance by seeking the opinion of a suitable qualified specialist. In the case of CECS and SPS this would be a recognised neurologist.
2. Report the diagnosis to the breed health co-ordinator. Health survey forms are available on the various Club websites and completion of one of these forms along with full information about your dogâ€™s condition should be forwarded to me (firstname.lastname@example.org).
3. Establish a single route to the research community. Using the breed clubs' Breed Health Co-ordinator is the recommended method for achieving the buy in of the research and veterinary community. It also keeps the breed engaged as a whole.
4. Sample collection from individual dogs is an important part of the process at a later stage. We will use the AHT for this as they are the KC's centre for genetic research. Further information will follow when and how these samples should be collected and forwarded.
It is important to understand that the genetic research requires careful co-ordination if we are to make useful progress. Involving a wide range of individuals without an agreed plan is unlikely to be efficient in producing results and is most likely to create competition and confusion among the research community. Hence the request that these things should be routed through me as Breed Health Co-ordinator.
This condition was first recognised in mainland Europe and America. It is likely the close breeding of a limited number of British lines brought this condition to the fore. Once discovered abroad the condition started to be reported in the UK. At the outset it was argued to be a gastric or muscle cramp but we have now come to accept the neurological origins of CECS. It is highly likely this condition has been present in the breed for a very long time but became increasingly prevalent in closely bred lines developed in the 1980s.
Neurological seizures have a prevalence of around 4-5% in borders. This is confirmed by our own breed survey in the UK and the breed surveys carried out by the Kennel Club in 2000 and 2015. Seizures are reported in dogs from around 4-5 years of age. Deaths linked to seizures are reported across a broad age range from 5 through to 15 years with a median age in excess of 10 years. CECS was reported specifically on the 2015 KC survey at a prevalence rate of 1.6%.
One of the challenges in dealing with CECS has been the development of specific diagnostic advice and the situation remains that there is no reliable confirmatory diagnostic test. We are therefore relying upon expert diagnosis based on symptomology alone. Typically CECS is characterised by abnormal behaviour (anxiousness, distracted attitude, lip licking) leading to a seizure type episode where the dog appears to remain conscious of its surroundings. The seizure appears in many cases to be associated with muscle spasm, loss of balance and occasionally gastric noise and probably discomfort. Once recovered dogs appear entirely normal.
These symptoms have been recorded and various video clips are available on-line. There is considered to be some similarity between CECS and Scottie Cramp and other similar cramping syndromes in a number of other terrier breeds.
A genetic predisposition has been conjectured for some time but despite various international teams promising 'progress soon' - in fact nothing has been forthcoming. This is quite possibly because of a lack of any co-ordinated effort between the various research groups and the lack of reliable diagnosis. This is reflected by the low number of scientific publications on this specific condition.
In the interim, further work is planned to investigate a correlation with diet related factors (gluten sensitivity) which may also aid the search for a diagnostic test and identification of genetic mutations. However given the range of non-specific symptoms and the disorganised way in which many dogs have been diagnosed as suffering from CECS there is every possibility that we are dealing with a number of mutations rather than single gene defect. The prospect of finding a suitable gene test remains an ambitious end point which will be difficult to achieve without carefully co-ordinated research.
Shaking Puppy Syndrome
SPS has been recently reported but even less is published on this condition in Border Terriers. It is a recognised condition in the Weimaraner breed where it is linked to a lack of myelin around nerve pathways. Puppies tend to improve as they mature. This is related to a known gene mutation in Weimaraner's and a test exists to identify affected, carriers and clear dogs.
On-line videos suggest the uncoordinated tremors in Weimaraner's is similar to that seen in Border Terriers as puppies but the Borders appear to be older. There is speculation that this is the same problem as CECS but this is as yet unconfirmed. In my view we would be very fortunate to find this syndrome has the same genetic basis as CECS as a single solution would resolve both conditions.
Regrettably this condition remains as a discussion on social media and has not been reported in any detail to me as Breed Health Co-ordinator and so no estimates of prevalence can be made.
If the breed wishes to make progress with inherited conditions it is important we develop the discipline to report emerging conditions to the Breed Health Co-ordinator. The system for doing this has been in place for at least 25 years. Furthermore it is important to realise that mutations are a fact of life and pedigree breeding has a tendency to amplify the emergence of autosomal recessive conditions, yet rapid action can limit this if the gene mutation can be identified. Complex inheritance is more difficult to over-come and it is possible this is the case with CECS.
Central reporting is the only way forward unless we are to degenerate into a â€˜blame cultureâ€™ approach which is entirely destructive and rarely produces the best result. I will state for the record that the system of reporting we currently have in place is confidential and effective but it relies on owners to use it and requires the breed to promote its value.
Prof Steve Dean BVetMed, MRCVS, DVR Border Terrier Breed Health Coordinator