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Karlin
17th October 2007, 09:15 PM
New newsletter out today from Dr Clare Rusbridge and Penny Knowler. Apologies for the table coming apart at the bottom but I think people can follow the numbers under each of the headings without too much difficulty. I will have this archived up on www.smcavalier.com as well, in the next day or two.

Note the special thanks at the end to all of you and to Bruce! :)


SYRINGOMYELIA NEWS Autumn 2007

A research update
By Clare Rusbridge and Penny Knowler
Stone Lion Veterinary Centre, 41 High Street, Wimbledon, London, SW19 5AU
neuro.vet@btinternet.com (CR) Confidential Fax: 020 87860525
penny.knowler@ntlworld.com (SPK)

In view of the enormous public contribution and support towards the ‘DNA for Healthy Cavaliers’ project, we
would like to thank everyone involved and summarize the current position with respect to the collection of samples
from dogs that have received MRI scans. We are delighted that our two distinguished collaborators, Dr Guy Rouleau
a world renowned ‘gene-finder’ and Dr Sarah Blott, an expert in quantitative genetics, will be speaking and
answering questions about our genome research and how it is being carried forward to help dogs, owners and
breeders at the Veterinary Satellite Meeting, Rugby, UK on the 26th October. This is part of International
Syringomyelia Symposium 2007 organized by the Ann Conroy Trust in association with the University of
Birmingham and the Society of British Neurological Surgeons and the Spine Society of Europe. Further details can
be found at www.syringomyelia2007.org

CKCS genealogy and MRI-confirmed DNA collection

A genealogy of more than 10600 related CKCS dogs spanning 24 generations across 3 continents (North America,
Australia and Europe) has been constructed from over 600 MRI-confirmed cases. The data is stored in an Access
database containing phenotypic descriptors, information on DNA availability, and filial relationships (Rusbridge et
al 2005). It provides baseline data for further studies that are important for investigating this complex, late onset
condition. Since the high incidence of the CM/SM was established in CKCS (Carruthers et al 2006), emphasis has
been placed on identifying suitable dogs for a genome scan from the point of view of familial relationship or
absence of CM/SM and other phenotypic parameters. We have established a world-wide collection of DNA samples
of over 1500 samples mainly from the CKCS breed. Of these approximately:

(i) 160 clinical cases were collected by Dr. Clare Rusbridge from the Stone Lion Veterinary Clinic (archived by
UK DNA Archive, Manchester University, additional storage TDDS Laboratories, Sussex).
(ii) 230 DNA samples were provided from breeders in the Netherlands who were screening dogs by MRI for their
breeding programmes (www.cavalierkingcharlesgilde.nl/) DNA was archived by Utrecht University,
Netherlands and organized by Dr P Mandigers.
(iii) 50 samples were provided by Dr. Olby from North Carolina State University leading the project “The Effect Of
Chiari I Malformations on CSF Flow In Cavalier King Charles Spaniels” funded by the American Cavalier
King Charles Spaniel Club Charitable Trust (www.ackcsccharitabletrust.org/ncsu-flowreport.htm)
(iv) 15 samples from Ohio University Syringomyelia research initiated by the ACKCSC Charitable Trust and
supported by Cavalier Health Foundation (Grant 105 www.cavalierhealthfoundation.com/grants.htm)
(v) 145 were collected by dedicated breeders and pet owners worldwide, demanding a great deal of commitment,
time, effort and often personal expense.
(vi) 45 samples from 9 other brachycephalic breeds affected with CM/SM of various degrees of genetic relatedness
to the CKCS including King Charles spaniels, Yorkshire terrier, Staffordshire Bull Terrier, Boston Terrier,
Griffon Bruxellois, Chihuahua, Bichon Frise, and French Bulldog.

An additional $8,000 award towards DNA archiving has been received from the Cavalier Health Foundation USA
(Grant 104 www.cavalierhealthfoundation.com/grants.htm )
Blood tests in the UK were funded by the parent Cavalier Club supported by Boehringer-Ingelheim.

Table 1. Summary of Cavalier King Charles Spaniels genealogy content (April 07)

Genealogy database content

Total / Males / Females / With DNA
Number. of dogs: 10636 / 3712 / 6924 / 1546
Number. of CM/SM cases : * 604 / 267 / 337 / 998
CM/SM MRI-confirmed cases: 408 / 182 / 226 / 385
Number of MRI SM clear cases: 215 / 97 / 118 /163

*diagnosed and treated medically without MRI confirmation or MRI report incomplete for project inclusion.

An amazing 83% of the cost of MRIs has been paid for by owners, some breeders scanning over 10 dogs in their
kennels. A fantastic ‘finale’ to the genome research funds was demonstrated recently by the generosity of members
of CavalierTalk and Cavalier Connection who
raised a magnificent $1,250 to pay for a specific MRI of a dog in Los Angeles requested by us. Sincere thanks to
contributors and Bruce Hassig for organizing this.

Celticharmony
17th October 2007, 11:36 PM
Huge thanks Karlin for such helpful info. Do you have any idea perhaps how much it costs for an MRI scan in Ireland or if not UK, and where does the one Cardiac specialist you mentioned actually have a clinic in Ireland? Reply at your own convenience as I know you are probably inundated with queries right now and don't wish to burdon you unneccessarily.

Karlin
17th October 2007, 11:42 PM
An MRI costs about €1000 at UCD to have a scan done and this requires a general anaesthetic -- not something to do unless there is a medical reason to do so (eg clear symptoms of SM ad one is considering surgery or wants a definite diagnosis). In the UK there are low cost clinics at a fourth to a third of that price but the scans are generally not as thorough -- they are more for breeding assessment/grading. The cardiologist is also at UCD.

Celticharmony
18th October 2007, 07:42 PM
Thank you for that Karlin. What a pity that if and when a vet suspects symptoms of something serious that our dog insurance doesn't at least go some way towards the cost of an MRI. Must ask my daughter how much the same would cost in France, just out of interest. I expect it will be similar.