{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T09:42:04Z","timestamp":1789378924535,"version":"build-2803163510"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,1,13]],"date-time":"2016-01-13T00:00:00Z","timestamp":1452643200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"University of Glasgow Small Animal Hospital Fund"},{"DOI":"10.13039\/501100000320","name":"Alzheimer's Society","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000320","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Neuroscience Research"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:p>Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable lysosomal storage disorders characterized by neurodegeneration and accumulation of lipopigments mainly within the neurons. We studied two littermate Chihuahua dogs presenting with progressive signs of blindness, ataxia, pacing, and cognitive impairment from 1 year of age. Because of worsening of clinical signs, both dogs were euthanized at about 2 years of age. Postmortem examination revealed marked accumulation of autofluorescent intracellular inclusions within the brain, characteristic of NCL. Whole\u2010genome sequencing was performed on one of the affected dogs. After sequence alignment and variant calling against the canine reference genome, variants were identified in the coding region or splicing regions of four previously known NCL genes (<jats:italic>CLN6<\/jats:italic>, <jats:italic>ARSG<\/jats:italic>, <jats:italic>CLN2<\/jats:italic> [=<jats:italic>TPP1<\/jats:italic>], and <jats:italic>CLN7<\/jats:italic> [=<jats:italic>MFSD8<\/jats:italic>]). Subsequent segregation analysis within the family (two affected dogs, both parents, and three relatives) identified <jats:italic>MFSD8<\/jats:italic>:p.Phe282Leufs13*, which had previously been identified in one Chinese crested dog with no available ancestries, as the causal mutation. Because of the similarities of the clinical signs and histopathological changes with the human form of the disease, we propose that the Chihuahua dog could be a good animal model of CLN7 disease. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/jnr.23710","type":"journal-article","created":{"date-parts":[[2016,1,14]],"date-time":"2016-01-14T08:59:42Z","timestamp":1452761982000},"page":"339-347","source":"Crossref","is-referenced-by-count":29,"title":["The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?"],"prefix":"10.1002","volume":"94","author":[{"given":"Kiterie M.E.","family":"Faller","sequence":"first","affiliation":[{"name":"School of Veterinary Medicine, College of Medical, Veterinary, and Life Sciences, University of Glasgow Glasgow United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose","family":"Bras","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience Institute of Neurology, University College London London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel J.","family":"Sharpe","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, College of Medical, Veterinary, and Life Sciences, University of Glasgow Glasgow United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glenn W.","family":"Anderson","sequence":"additional","affiliation":[{"name":"Department of Histopathology Great Ormond Street Hospital London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee","family":"Darwent","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience Institute of Neurology, University College London London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia","family":"Kun\u2010Rodrigues","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience Institute of Neurology, University College London London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Alroy","sequence":"additional","affiliation":[{"name":"Department of Pathology Tufts University School of Medicine and Tufts\u2013New England Medical Center Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Penderis","sequence":"additional","affiliation":[{"name":"VetExtra Neurology Broadleys Stirling United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara E.","family":"Mole","sequence":"additional","affiliation":[{"name":"MRC Laboratory for Molecular Cell Biology, UCL Institute of Child Health, and Department of Genetics, Evolution and Environment, University College London London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo","family":"Gutierrez\u2010Quintana","sequence":"additional","affiliation":[{"name":"School of 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