{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T02:34:50Z","timestamp":1762050890582,"version":"build-2065373602"},"reference-count":44,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2022,5,7]],"date-time":"2022-05-07T00:00:00Z","timestamp":1651881600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology of Japan","doi-asserted-by":"publisher","award":["17H03927"],"award-info":[{"award-number":["17H03927"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animals"],"abstract":"<jats:p>Neuronal ceroid lipofuscinosis (NCL) is a group of rare lethal neurodegenerative lysosomal storage diseases that occur in a range of dog breeds, including Chihuahuas. Recently, a homozygous single base-pair deletion (c.846delT), which causes a frame shift generating a premature stop codon (p.Phe282Leufs13*) in the canine CLN7\/MFSD8 gene, has been identified as a causative mutation for NCL in Chihuahuas. The objective of this study was to determine the frequency of the mutant allele and\/or carrier rate of NCL in Chihuahuas in Japan using a newly designed real-time PCR assay. Samples of saliva were randomly collected from 1007 Chihuahua puppies during physical examinations prior to the transportation to pet shops. Screening results revealed a carrier rate of 1.29%, indicating a mutant allele frequency (0.00645) that is considered sufficiently high to warrant measures for the control and prevention of this lethal disease. The genotyping assay designed in this study could make a valuable contribution to the control and prevention of NCL.<\/jats:p>","DOI":"10.3390\/ani12091210","type":"journal-article","created":{"date-parts":[[2022,5,8]],"date-time":"2022-05-08T08:04:21Z","timestamp":1651997061000},"page":"1210","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan"],"prefix":"10.3390","volume":"12","author":[{"given":"Shahnaj","family":"Pervin","sequence":"first","affiliation":[{"name":"Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima 890-0065, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2248-917X","authenticated-orcid":false,"given":"Md Shafiqul","family":"Islam","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima 890-0065, Japan"},{"name":"Department of Pathology and Parasitology, Faculty of Veterinary Medicine, Chattogram Veterinary and Animal Sciences University, Khulshi, Chattogram 4225, Bangladesh"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomi","family":"Tada","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima 890-0065, Japan"},{"name":"Japan Institute of Small Animal Reproduction (Bio Art), 3-16-9 Uchikanda, Chiyoda-ku, Tokyo 101-0047, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiko","family":"Tsutsui","sequence":"additional","affiliation":[{"name":"Japan Institute of Small Animal Reproduction (Bio Art), 3-16-9 Uchikanda, Chiyoda-ku, Tokyo 101-0047, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Mahbubur","family":"Rahman","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima 890-0065, Japan"},{"name":"Department of Pathology and Parasitology, Faculty of Veterinary Medicine, Chattogram Veterinary and Animal Sciences University, Khulshi, Chattogram 4225, Bangladesh"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6418-5169","authenticated-orcid":false,"given":"Akira","family":"Yabuki","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima 890-0065, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martia Rani","family":"Tacharina","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima 890-0065, Japan"},{"name":"Faculty of Veterinary Medicine, Airlangga University, Campus C, Jl. Mulyorejo, Surabaya 60115, Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2642-9908","authenticated-orcid":false,"given":"Tofazzal Md","family":"Rakib","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima 890-0065, Japan"},{"name":"Department of Pathology and Parasitology, Faculty of Veterinary Medicine, Chattogram Veterinary and Animal Sciences University, Khulshi, Chattogram 4225, Bangladesh"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1691-1672","authenticated-orcid":false,"given":"Shinichiro","family":"Maki","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima 890-0065, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4430-5645","authenticated-orcid":false,"given":"Osamu","family":"Yamato","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima 890-0065, Japan"},{"name":"Faculty of Veterinary Medicine, Airlangga University, Campus C, Jl. Mulyorejo, Surabaya 60115, Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1177\/0300985813502818","article-title":"Characterization of neuronal ceroid lipofuscinosis in 3 cats","volume":"51","author":"Chalkley","year":"2014","journal-title":"Vet. Pathol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1111\/j.1365-2990.1995.tb01028.x","article-title":"The neuronal ceroid lipofuscinoses (Batten disease): Comparative aspects","volume":"21","author":"Jolly","year":"1995","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1748-5827.1994.tb03290.x","article-title":"Canine ceroid lipofuscinosis: A review and classification","volume":"35","author":"Jolly","year":"1994","journal-title":"J. Small Anim. 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