Other Health Studies

Paroxysmal Dyskinesia in Norwich Terriers
Study Update from the United Kingdom
Jane Schubart, NTCA Health Committee, January 2, 2021

Mrs. Ruth Corkhill BVSc, MRCVS, Kennel Club Breed Health Coordinator for the Norwich Terrier Club (UK) provided an update on the status of studies in the United Kingdom. A specialist team based at the Animal Health Trust has been working for more than 15 years to solve the inheritance question of Paroxysmal Dyskinesia, (also known as Canine Epileptoid Cramping Syndrome), that can occur in Norwich Terriers. Unfortunately, after more than 75 years, AHT closed on July 31, 2020 due to financial reasons, compounded by the economic implications of the pandemic and decreased funding for the
charity.

At this time, all Norwich terrier samples are safely stored at Cambridge University. It is hoped that the study group will reconvene in some form to continue the work. Dr. Cathryn Mellersh will be working there, and Dr. Sally Ricketts may also be involved. Dr. Ricketts, a geneticist and a PhD student Chris Jenkins, at the Canine Genetics Research Group at the AHT were working on a study to analyze 24 well-characterized “affected” cases (from Dr. Luisa di Risio’s previous DNA study) and 24 unaffected dogs on a new DNA marker array to find regions of the DNA associated with the condition. The hope was to identify some suggestive associations of cramping with regions of DNA that could be analyzed further in collaboration with another institution. Results of this study have not been released by the researchers.

NTCA has provided funding to the AKC Canine Health Foundation to help support the following research studies:

CHF Grant# 1425
Title: Identification of Epilepsy-Causing Mutations from the Associated Loci by Next-Generation Resequencing
Principal Investigator:  Hannes T Lohi, PhD;  University of Helsinki and the Folkhälsan Institute of Genetics
Program Area: Epilepsy
Total Grant Amount: $86,400
Project Dates:1/1/2011 to 6/30/2012
NTCA support:  $2,500  (Source:  Donor-advised fund, 4-26-2011)
Progress Report

Resulting scientific papers:

Koskinen, L.L.E., Seppälä, E.H., Weissl, J. et al. ADAM23 is a common risk gene for canine idiopathic epilepsy.BMC Genet 18,8 (2017). https://doi.org/10.1186/s12863-017-0478-6

Lequarré AS, Andersson L, André C, Fredholm M, Hitte C, Leeb T, Lohi H, Lindblad-Toh K, Georges M. LUPA: A European initiative taking advantage of the canine genome architecture for unravelling complex disorders in both human and dogs. Vet J. 189(2):155-9, 2011. Full Manuscript

Seppälä EH, Koskinen LLE, Gulløv CH, Jokinen P, Karlskov-Mortensen P, et al. (2012) Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs. PLoS ONE 7(3): e33549. doi:10.1371/journal.pone.0033549.  Full Manuscript

CHF Grant# 01827

Title:  High-throughput (metagenomic) sequencing for identification of bacteria associated with canine periodontitis and oral health
Principal Investigator:  Marcello Pasquale Riggio, PhD;  University of Glasgow
Program Area:  General Canine Health
Project Dates:  1/1/2013 to 12/31/2014
NTCA support:  $5,000 (Source:  Donor-advised fund, 3-11-2013)
Progress Report