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The Scientific World Journal
Volume 2012, Article ID 383174, 7 pages
Research Article

Neuronal Ceroid Lipofuscinosis in Border Collie Dogs in Japan: Clinical and Molecular Epidemiological Study (2000–2011)

1Laboratory of Clinical Pathology, Department of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima, Kagoshima 890-0065, Japan
2Japan Border Collie Health Network, 1-14-8 Manabigaoka, Tarumi-ku, Hyogo, Kobe 655-0004, Japan
3Department of Veterinary Medicine, College of Bioresource Sciences, Nihon University, 1866 Kameino, Kanagawa, Fujisawa 252-0880, Japan
4Tamura Animal Clinic, 7-16 Yoshimien, Saeki-ku, Hiroshima, Hiroshima 731-5132, Japan
5Japan Animal Referral Medical Center, 2-5-8 Kuji, Takatsu-ku, Kanagawa, Kawasaki 213-0032, Japan
6Shinjo Animal Hospital, 104-1 Katsuragi, Nara, Katsuragi 639-2144, Japan
7Laboratory of Veterinary Surgery II, School of Veterinary Medicine, Azabu University, 1-17-71 Fuchinobe, Kanagawa, Sagamihara 229-8501, Japan
8Department of Veterinary Science, Nippon Veterinary and Life Science University, 1-7-1 Kyounan-chou, Tokyo, Musashino 180-8602, Japan
9Department of Veterinary Clinical Pathobiology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Yayoi, Tokyo, Bunkyo-ku 113-8657, Japan
10Sato Animal Hospital, 6-38-20 Goinishi, Chiba, Ichihara 290-0038, Japan

Received 12 April 2012; Accepted 3 May 2012

Academic Editors: M. F. Landoni and E. J. Thompson

Copyright © 2012 Keijiro Mizukami et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Neuronal ceroid lipofuscinosis (NCL) is an inherited, neurodegenerative lysosomal disease that causes premature death. The present study describes the clinical and molecular epidemiologic findings of NCL in Border Collies in Japan for 12 years, between 2000 and 2011. The number of affected dogs was surveyed, and their clinical characteristics were analyzed. In 4 kennels with affected dogs, the dogs were genotyped. The genetic relationships of all affected dogs and carriers identified were analyzed. The survey revealed 27 affected dogs, but there was a decreasing trend at the end of the study period. The clinical characteristics of these affected dogs were updated in detail. The genotyping survey demonstrated a high mutant allele frequency in examined kennels (34.8%). The pedigree analysis demonstrated that all affected dogs and carriers in Japan are related to some presumptive carriers imported from Oceania and having a common ancestor. The current high prevalence in Japan might be due to an overuse of these carriers by breeders without any knowledge of the disease. For NCL control and prevention, it is necessary to examine all breeding dogs, especially in kennels with a high prevalence. Such endeavors will reduce NCL prevalence and may already be contributing to the recent decreasing trend in Japan.