EPISODIC FALLING
KC Listings for CC/DE and EF test results – Detailed listings of Cavaliers that have been tested for CC/DE and/or EF can be found on the Kennel Club web site using the following links. These lists are updated by the Kennel Club at regular intervals.

For Episodic Falling results see Clear; Carrier; Affected

For Curly Coat – Dry Eye results see Clear; Carrier; Affected

Any queries should be directed to Nicola Caton, Health and Breeder Services Department at the Kennel Club, telephone 0844 4633980.

Release of research DNA test results for Cavaliers
Now that DNA testing for these two conditions has become an official KC scheme, the AHT have received requests to release results for individual dogs so that they will appear on the KC online Health Test Results Finder, be included on KC registration documents, and be recorded in the Breed Records Supplement.
Owners wishing test results from the research to be released to the KC are required to contact the AHT directly to provide consent. Reporting of these results should be entirely voluntary. Requests can be made by emailing Lou Hayward at and these will be processed as quickly as possible if the subject line reads "Cavalier DNA test results" and the body of the email contains the KC registered name of the dog or dogs involved and a statement to the effect that the owner gives their permission for DNA test results to be released to the KC.
Lou can also be reached by post at Lou Hayward (CPM), Animal Health Trust, Lanwades Park, Kentford, Newmarket CB8 7UU.
Telephone requests will not be accepted for security reasons.
If the ownership of a Cavalier has changed since the study was completed in April 2012, the new owner will be asked to send a copy of the dog’s current KC registration certificate by email or post.
Once requests have been received, batches of results will be forwarded to the KC regularly where they will be uploaded to the Health Test Results Finder as quickly as possible. Owners should expect the total processing time to take a fortnight, although it may be less than this.

It is important that the emails requests are exactly as requested
April 2013 – On 16th April the KC announced that following consultation with the Cavalier King Charles Spaniel breed health coordinator, on behalf of the breed clubs, the Kennel Club has approved new official DNA testing schemes for Curly Coat-Dry Eye and Episodic Falling in the breed.
March 2013 – Request made to the Kennel Club to include all results from the EF CC/DE DNA tests in the KC’s registration system – Read the full statement.
June 2012 – AHT Report into the "Frequency of two disease-associated mutations in Cavalier King Charles Spaniels" – Read the AHT Summary or Read the full report.
April 2011 – Two new DNA tests for Curly Coat Dry Eye syndrome and Episodic Falling in Cavalier King Charles Spaniels (CKCS) – Read the Press Release
April 2011 – Animal Health Trust investigation into frequencies of the mutations associated with dry eye curly coat syndrome and episodic falling in Cavalier King Charles Spaniels in the UK – Details of the study
October 2009 – Read the Progress Report
Episodic Falling (EF) is a syndrome of muscle stiffness or collapse that occurs in the Cavalier King Charles Spaniel. It has been in evidence in the Cavalier for over forty years and the number of reported cases has shown a dramatic increase over the last few years. The more correct medical terminology to describe the syndrome is that of ‘Paroxysmal Exercise-Induced Dystonia’, and forms part of a group of so-called Movement Disorders recognised in dogs, but the terms Episodic Falling and Hypertonicity have become accepted to describe the condition.

The South and West Wales CKCS Club is supporting the research being carried out into Episodic Falling.

RESEARCHERS

Dr Jacques Penderis BVSc, MVM. PhD, Cert VR, DipECVN, MRCVS, RCVS and European Specialist in Veterinary Neurology is leading the research.

Dr Penderis has, almost single-handed, been researching this condition for a number of years with extremely limited funds. He is now working with Dr Cathryn Mellersh PhD, Head of the Genetic Department at the Animal Health Trust in Cambridge.

Dr Mellersh has managed to secure funds to employ a full time student, Oliver Foreman, to work on three canine neurological disorders at the AHT, one of which will be Episodic Falling in Cavaliers.

Dr Penderis, Dr Mellersh and Mr Foreman will also be working with Professor Robert Harvey (Neuro-science and Genetics) from The School of Pharmacology.

Professor Harvey is working on Hyperkplexia, a human disorder for which he has found new genes that could be related to EF, hence his interest in the CKCS. This is very exciting and could be a major breakthrough.

INITIAL WORK

The initial analysis work and sequencing of the genes will be done at The Animal Health Trust. If the candidate genes proposed by Professor Harvey are involved, the work will continue at his laboratory. If the genes are different then an SNP chip (geonome scan) will be run on 40 dogs, which is all they can afford to do at the moment.

Jacques Penderis and his team have a very good track record and have recently isolated the gene that causes L-2-HGA (L-2-hydroxyglutaric aciduria), a nuerometabolic disorder in Staffordshire Bull Terriers. They now have a DNA test available for this disorder.

FUNDING

The team have been unable to secure funding for the initial work, which will cost about £2000 or for the SNP chip which will be £6,000 ($12,000). They are hoping that Cavalier clubs, owners and breeders will be able to help with donations or fund raising.

So please consider sending what you can towards the cost of this research, every little helps. We are very lucky to have these top neurologists and geneticists giving their time to this study.

Donations can be sent to Dr Cathryn Mellersh, The Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk. CB8 7UU
Email:

Cheques should be made payable to The Animal Health Trust but please include a covering letter stating that the donation is for Episodic Falling in the CKCS research. This will ensure that it is paid into the correct account.
For further information please contact Barbara Reese by emailing or visit the website www.episodicfalling.com
The link provided to the Episodic website is provided for information only. Questions about EF should be directed to Barbara Reese and not to the CKCS Club.
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