Cranioplasty surgery in the UK

The Daily Mail carried an informative article yesterday about Sophie, a cavalier who recently underwent the mesh 'cranioplasty' surgery for SM, pioneered in the US at Long Island Veterinary Services (LIVS). Cranioplasty is more involved than the normal decompression surgery, but has shown good results so far in the US. According to the article:

A specialist team of top surgeons were drafted in from Bristol to accompany vet Graham Oliver at Buckley House Veterinary Surgery in Nottinghamshire.

Mr Oliver said: 'The condition is one which causes many dogs to be put down because of the shrieking pain they suffer.

'Vets have been missing these cases for years because it can only be properly diagnosed using an MRI scanner.

'Some symptoms may recur in dogs, but so far of the limited research performed about two third of dogs will be symptom free for the rest of their life.'

'The operation relieves the pain in the dog and for Sophie if she hadn't have had this operation she would have had to be put to sleep, it's as simple as that.

Update on genome research

A new update from Dr Clare Rusbridge and Penny Knowler has been released on the CM/SM genome research project currently underway in Canada with Guy Rouleau. Note that they are looking for cavaliers OVER 5 scanned clear for SM and any other scanned relatives. If you can help, contact details are noted at the end of the newsletter.

Summary of genetic studies of Chiari-like Malformation with Syringomyelia
(CM/SM) in the Cavalier King Charles Spaniels (CKCS)

Clare Rusbridge BVMS PhD DECVN MRCVS, European and RCVS Specialist in Neurology
Penny Knowler BSc (Hons)
Stone Lion Veterinary Center, Wimbledon, UK SW19 5AU

November 2008

This study was initiated in 2000 when research suggested a possible hereditary basis for CM/SM. We
constructed a genealogy and database which currently holds 11,800 related CKCS dogs including over 700
MRI confirmed dogs with relevant phenotypic information and over 1,500 DNA samples.

Collecting and archiving DNA began in 2003 in collaboration with Dr Guy Rouleau, Director of CHU Sainte
Justine Research Centre in Montreal (formally at McGill University) and Dr Berge Minassian at the
Children’s Hospital Toronto. Funding was provided by the Cavalier Health Foundation (#104), UK DNA
Archive, Boehringer Ingelheim UK, Utrecht University, the Cavalier Club UK and TDDS Laboratories UK.
Our worldwide campaign, known as 'DNA for Healthy Cavaliers’, has been supported by many dedicated
breeders, dog owners and veterinarians from the UK, Netherlands, France, USA, Canada, Australia and
South Africa. We are particularly indebted to Dana Schuller-Kuyper (Netherlands), Margaret Carter (UK),
Randi Rosvoll and Anne Eckersley (USA), Pat Barrington (Canada), and Tania Clapham (RSA) for their
work as Club Health Representatives. There has been a variety of imaginative fundraising initiatives from
supporters: Sandy Smith’s book, ‘For the Love of Ollie’; Karlin Lillington’s CavalierTalk Forum; 'Friends of
Cavaliers’; David Harwood; Sue Robinson’s Plant Sale; Carol Fowler’s efforts, to name just a few. Further
information can be found by reading our eight research newsletters starting Jan 2004
http://www.thecavalierclub.co.uk.



The genetic research has been made possible because owners, who been screening their dogs for
breeding purposes or dogs have been diagnosed with CM/SM, have made their MRI’s available to Clare for
phenotypic evaluation. The DNA collection is also biased because, for the last two years, we have
specifically targeted dogs over 5 years of age that do not have syringomyelia. SM is a ‘late onset’ condition
and a syrinx may only develop as the dog gets older. Unfortunately these dogs can produce puppies with
the more severe, painful form of SM so it is very important to obtain data on older dogs.

The current genetic investigation is led by Dr Zoha Kibar at Sainte Justine Research Centre. An initial
CKCS whole genome scan was completed in 2005 with 173 CKCS dogs conducted at the Mammalian
Genotyping Centre at the Marshfield Clinic in Wisconsin USA. Selection was based on SM-affected status
and familial relationship in the CKCS database. Genetic analysis was undertaken by Dr Marie-Pierre Dube
at University of Montreal and six genomic regions that could harbour the CM/SM gene/s were identified.

A recent grant from the American Kennel Club Canine Health Foundation (#954) has allowed our genetic
studies to continue. Dr Kibar is undertaking the fine mapping of the six genomic regions with a larger
sample size. Additional DNA samples have been provided by North Carolina State University and Guelph
University as a side study from their own investigations into CM/SM. A new whole genome scan using the
innovative canine SNP (single nucleotide polymorphisms) genotyping technology is planned in the near
future. The candidate genetic interval(s) identified in both genome scans will be narrowed down using
genetic studies in the CKCS and other toy breeds affected with CM/SM. Once the candidate genomic
region(s) have been well defined, the positional candidate gene approach will be used to identify the
defective gene(s) in CM/SM.

Finding the gene/s responsible for CM/SM will help to understand what causes the physical signs and find
the most effective treatments. An important aspect for breeders is that it should be possible to use a simple
DNA test such as a buccal swab to identify carriers at birth. It will no longer be necessary to MRI dogs at
2.5years or older. We are collaborating with Dr Sarah Blott at the Animal Health Trust in the UK who is
developing an optimization breeding programme for dogs aimed to help breeders breed away from the
condition, reduce and hopefully eliminate this devastating disease.


If you would like to help the genetic research you can do so by encouraging owners to scan their dogs and
send the MRI report and pedigree information to Clare or Penny. Email neuro.vet@btinternet.com or
penny.knowler@ntlworld.com
We are specifically looking for dogs that are at least 5 years that do NOT have syringomyelia and any family
members that have also been MRI’d.

Rusbridge treatment diagram updated

Dr Clare Rusbridge has released an updated version of her treatment diagram, which offers a very useful set of approaches to treating pain and discomfort from Chiari-like malformation and syringomyelia. Changes include some additional medications that are now being used by various neurologists and neurosurgeons.

The new document can be downloaded as a PDF here. It may be distributed to veterinarians or anyone who would find it helpful. Help raise awareness of the condition and make sure vets are as informed as possible by printing it out and bringing it into your own vets or any area vets.

MRI study for Griffons Bruxellois

A new MRI clinical trial study on syringomyelia in Griffons Bruxellois (Brussels griffons) has been launched at the University of Georgia College of Veterinary Medicine:

Funding for investigation of this disease in the Brussels Griffon has been awarded to the neurology service at the UGA College of Veterinary Medicine by the Canine Health Foundation (a branch of the American Kennel Club).

The study is in collaboration with Clare Rusbridge and Penny Knowler in the UK, world-renowned for their pioneering work in this disease in Cavalier King Charles spaniels over the last 10 years. Their preliminary investigations in Europe and Australia with Brussels Griffon breed groups have shown the need for this study. Indeed, this work has encouraged many Brussels Griffon clubs and groups all over the world to financially support further work, and all the veterinarians involved in this venture are extremely grateful for this.

More information can be found here as well as a link to download an application to join the study, for griffon owners. Applicants need to have AKC registered dogs with five generation pedigrees.

Dogs will be selected from as diverse breeding lines as possible. Priority will be given to dogs over 5 years of age which are related, with some showing signs and some normal; but dogs less than 18 months old may be accepted if related to older dogs within the study.

Looking in the mirror

The writer and breed health advocate C.A. Sharp has given permission for me to include her thought-provoking essay "The Biggest Problem" on the SM Infosite. It will ring true for many:

"Intimidation to enforce silence, the fear of speaking out, and inability to face facts, not to mention outright lies, are in my opinion the biggest problem breeders face in the attempt to control genetic disease in purebred dogs.

There are many conditions for which science still has too few answers. The expense of testing can be prohibitive. Some diseases occur so late in a dog's career, it will already have puppies and maybe grand-puppies on the ground. All of these pale beside our too-frequent refusal to be honest with ourselves and each other.

Those of us who consider ourselves to be truly dedicated to the preservation of purebred dogs must make a dispassionate analysis of the human behavior surrounding canine genetic disease and realize what it is doing, not only to our dogs, but to ourselves."

Read the rest here.

Pedigree Dogs Exposed

This controversial documentary ignited public discussion in the UK about the way in which purebred dogs are bred -- especially close linebreeding -- and the role of the breed clubs and Kennel Club in breed health (or lack of it). According to the Kennel Club's own breed survey, some 37% of purebred dogs have at least one health problem, which suggests the approach to breeding by a significant number of breeders must be causing problems for breeds.

One of the breeds featured prominently in the show was the cavalier. You can watch a trailer for the programme here and you can watch the entire programme here, where it is divided in six sections.

The UK CKCS Club has this response to the programme.

Some points to consider in that response:

* "Syringomyelia first came to light approximately five years ago."
Actually, it first came to light for the club in 1996-97 at latest -- I have seen letters to the club and an item that ran in a newsletter. By five years ago, there was already a fair amount of information around that indicated this was a serious and growing problem and researchers were already compiling and analysing 15,000 cavalier pedigrees to try to understand inheritance.

* "The club has no mandatory powers to impose breeding regulations on its members."
Surely this can be changed. It is done in Sweden, simply by linking full open registration of puppies to the production of a cardiologist heart clearance within 8 months before the mating, as well as two other health certificates, and no dog may be bred at under 24 months of age.

* "Most cavaliers lead happy, normal lives and some Vets say they do not encounter SM."
Researchers and caring breeders and pet owners want to ensure the majority of cavaliers continue to lead happy lives. But all indications over the past decade is that SM is appearing more frequently, in more severe forms, at a younger age. So widespread is the skull malformation that makes their skull to small for the brain that Chester-based neurologist Geoff Skerritt, who has MRId over 600 cavaliers, found fewer than three dozen cavaliers clear of the malformation and clear of syringomyelia, and fewer than 15% free of the malformation. Awareness of this specialist condition, which most vets would never have seen or diagnosed in the past, remains very low, so it isn't surprising if some vets never 'see' SM. They don't know what to look for.

* "Eye problems are being eradicated."
It is probably more appropriate to say that eye problems have begun to be addressed by greater awareness and support for eye testing within the club -- this is to the club's credit. But eye problems are not a big breed issue -- and noticeably missing is a statement about the other serious disease in the breed that is widespread, and is the breed's number one killer -- mitral valve disease. In opposition to the advice of its own cardiologist, Simon Swift, the club has never made cardiologist testing a requirement and only finally last year made cardiologist testing the 'recommended' option -- but only for five year old+ dogs and not for breeding dogs! -- even though it has been known for a decade that vets miss half of all early onset murmurs. That means vet heart tested breeding stock are just as likely to have a murmur and early onset MVD as not have it, and hence a 50% chance of passing on poor heart health to offspring. Club cavaliers are regularly bred at well under the MVD protocol age of 30 months, too. Simon Swift acknowledges in Pedigree Dogs Exposed that there has been no progress at all on heart health with club-bred cavaliers.

The club and Kennel Club have indeed been supportive of several projects too, again, to their credit. The club supported both CKCS SM conferences held in the UK, has funded research projects, and in particular, most recently, major support has gone to geneticist Sarah Blott to produce estimated breeding values to help breeders select away from syringomyelia.

All of these are important initiatives. But far more needs to be done, and now is the time to do it.

International SM Symposium, Oct 26 2007

During this four day international symposium on human SM, a special meeting has been set up with syringomyelia experts to discuss SM in canines, most specifically, in cavaliers. Several of the leading researchers will be there to speak and participate in a panel discussion with questions from the public.

This is a fantastic opportunity for anyone interested in the future of this breed to attend and learn about this condition -- fees for the full day are only £45 (see below for registration information). If you are interested in submitting an email question, please do so immediately as questions will all need to be in by early October. You will find more information on submitting questions here. The full conference website is here.

If you are interested in attending, here is more information, from a press release from the Kennel Club:

Veterinary Satellite Meeting

For breeders, dog owners, veterinary surgeons & nurses
1700 – 2100hs Friday 26th October 2007

It is with great pleasure that we invite you to the historic town of
Rugby, to join a meeting of specialists in syringomyelia, at an
international Symposium arranged by the Ann Conroy Trust, in association
with the University of Birmingham, the Society of British Neurological
Surgeons, the Spine Society of Europe and the Kennel Club.

Syringomyelia is one of the most common spinal cord disorders of toy
breed dogs and has been reported in the Cavalier King Charles Spaniel,
King Charles Spaniel, Griffon Bruxellois, Yorkshire Terrier, Maltese
Terrier, Chihuahua, Miniature Dachshund, Miniature &Toy Poodle, Bichon
Frise, Pug, Shih Tzu, Pomeranian, Staffordshire Bull Terrier, Boston
Terrier, Pekingese, Miniature Pinscher, and French Bulldog. The most
common clinical signs are pain, scratching at the neck and shoulders and
walking difficulty.

Presentations

*
Canine syringomyelia
Dr. Clare Rusbridge, Stone Lion Veterinary Centre

*
Human chiari malformation and syringomyelia
Mr. Graham Flint, Queen Elizabeth Hospital, Birmingham

*
The search for the gene(s) predisposing to chiari I malformation with
syringomyelia
Dr. Guy Rouleau, Director, Center for the Study of Brain Diseases,
University of Montreal

*
Breeding for health in pedigree dogs: optimisation of breeding
strategies to reduce inherited disease
Dr Sarah Blott, Animal Health Trust – sponsored by Hills

*
Experiences in surgery for canine syringomyelia
Dr. Dominic Marino, Long Island Veterinary Specialists – sponsored by
Novartis

*
Syringomyelia Question Time – Ask the Experts
Chaired by Dr. Bruce Fogle and sponsored by Pfizer Animal Health

Venue: Rugby School, Rugby, Warwickshire

Registration fee:

Veterinary Satellite meeting only - £45 (exclusive of buffet supper) £59
(inclusive of buffet supper)

General meeting Syringomyelia 2007 Friday 26th Oct - £150 (inclusive
full lecture programme, veterinary satellite meeting, lunch, buffet
supper and refreshments)

For registration and more detailed information go to
www.syringomyelia2007.org or contact

Administration and Delegate Coordinator – Barbara Masters

Email: admin@syringomyelia2007.org

Tel +44(0)1788 537676 Fax +44 (0) 1788 569996