By Clare Rusbridge and Penny Knowler
Stone Lion Veterinary Centre, 41 High Street, Wimbledon,
London, SW19 5AU
firstname.lastname@example.org (CR) Confidential Fax: 020
It is a year since we started to produce these Newsletters
with the aim of updating breeders and owners of the
research developments into the cause and treatment of
syringomyelia. It has been quite a year and we feel very
fortunate to have come into contact with so many CKCS
lovers. We would welcome other contributions to this
newsletter from other pet lovers, vets or researchers.
The DNA collection continues to grow with well over 800
samples, some spanning 6 generations. Our knowledge of the
disease has been advanced particularly by the help of
owners who have MRI'd their dogs from UK and USA.
However, we are particularly indebted to the Dutch breeders
who have undertaken a nationwide MRI screening at
considerable personal expense. They take the view that
selection for health is every bit as important as selection
for temperament and appearance. Dana Schuller-Kuyper
organised a talk by Clare in Utrecht, Netherlands in late
The talk was extremely well received. The participants,
some travelling from Germany, included breeders and members
of the veterinary and human medical profession.
We are very grateful for the hard work and commitment that
has been shown from around the world. Pat Barrington and
the health committee of the Canadian Cavalier Club
spearheaded a series of very successful blood clinics, one
of which totalled a record 33 dogs. The breeders travelled
long distances to take part and enjoyed the social
opportunity meeting up with their puppy owners. These
collections were undertaken with super efficiency, each dog
being examined by a vet who gave their services free and
forwarded the completed paperwork of phenotype forms,
medical notes and pedigrees.
Thanks also to Isabelle Barthes in France, who has
successfully completed a DNA collection there. The
attention to completed paperwork, especially 5 generation
pedigrees was particularly appreciated by Penny. This has
enabled DNA from related dogs from different countries to
be linked. Veterinary Neurologist Dr. Laurent
Cauzinille helped translate the documents, wrote a review
article for the French Veterinary profession and gave a
presentation on syringomyelia to the CENA (French Cavalier
& King Charles Club).
Syringomyelia/occipital hypoplasia (Chiari malformation)
does occur in other breeds. We are keen to obtain DNA from
as many of these affected dogs as possible – not just CKCS.
We have been helped to locate some volunteer donors from an
online support group set up by Angela Baker. Apart from
offering support for the distress that syringomyelia causes
to owners and dogs alike, the group has provided a forum
for debate and a means of disseminating information.
Members have a wide range of expertise and experiences and
the website provides the opportunity to share this in a
founded the Support Group in 2003 and membership
currently stands at 308. There have been 5859 messages
posted. Membership is free.
The UK Archive will be shipping over 450 samples to Canada
in the next few weeks. We are grateful to Wendy Hallows and
Francine Jury who has been assisting in this hard work.
Archiving is now done at the Centre for Integrated Genomic
and Medical Research (CIGMR) Division of Epidemiology and
Health Sciences at Manchester University, M13 1BJ.
As some of you may have already heard, the Rouleau
laboratory will be relocating to the University of Montreal
Health Centre (CHUM) situated at the Notre Dame Hospital in
Montreal on March 7, 2005. The new Centre for the
Study of Brain Diseases is an integrated research unit
headed by Dr. Guy Rouleau that comprises 4 clinical
scientists with an interest in the genetics of various
neurological diseases. The new facilities include
state of the art genetic equipment that will enable the
processing of a high volume of DNA samples as well as cell
culture and genotype analysis. Melanie Benard who is
co-ordinating the project in Canada is also moving. Details
of the new address and information for sending samples from
out-with the UK can be obtained from Clare or Penny
(address above) or from www.thecavalierclub.co.uk.
We are delighted to receive a grant for $8,000 from the
Cavalier Health Foundation (USA) towards the archiving of
DNA which has been undertaken by Dr Berge Minassian at the
Hospital for Sick Children in Toronto. Some owners and
breeders (not all CKCS) have expressed the wish to raise
funds for the DNA research in North America we have
arranged deposit facilities for both Canadian and USA
dollars to be sent to a designated Syringomyelia Research
Fund directed by Dr Minassian (again details from
www.thecavalierclub.co.uk or from us).
We are also delighted that we can report the success of
Clare’s collaboration with Dr Berge Minassian team in
Toronto in identifying a unique canine gene responsible for
Lafora disease (a form of epilepsy) (Science 2005; 307: 81)
The experience gained by Clare and Penny in this research
inspired the 'DNA for Healthy Cavaliers' project.
If the medical status of the dog changes simply fill in
another form and send or fax to Clare marking 'UPDATE'
clearly on the form. This is especially important for MVD
when dogs often go for regular checkups.
1. • DNA from our priority dogs (particularly MRI
2. • If possible send a copy of CD of MRI to Clare (or
she can return it )
3. • accurately filled in phenotype forms, the
provision of medical notes if available and a
pedigree. This enables the geneticist to make full
use of the DNA.
Notes in the Diary -- upcoming lectures by Clare Rusbridge
ACKCSC National Specialty in Lancaster, Pennsylvania May
National Meeting/Show of the Cavalier King Charles Spaniel
Club USA May 12th 2005
Canadian Cavalier King Charles Spaniel Club, Ontario, May
American College Veterinary Internal Medicine; Neurology
Forum, Baltimore, Maryland, 3rd June 2005 (veterinary