Literature DB >> 2069541

Clinical features of ceroid lipofuscinosis in border collie dogs.

V P Studdert1, R W Mitten.   

Abstract

Ceroid lipofuscinosis was diagnosed by histopathological and histochemical findings in 17 related border collie dogs and by clinical signs in 6 of their litter mates. Behavioural changes, first hyperactivity and later aggression, commenced at 16 to 23 (mean 19.5) months of age. Motor abnormalities and blindness were observed at the mean ages of 20.8 and 21.2 months, respectively. All dogs were euthanased 1 to 6 months after the onset of clinical signs, mean age 23.1 months. Pedigree data supported an autosomal recessive mode of inheritance.

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Year:  1991        PMID: 2069541     DOI: 10.1111/j.1751-0813.1991.tb03156.x

Source DB:  PubMed          Journal:  Aust Vet J        ISSN: 0005-0423            Impact factor:   1.281


  7 in total

1.  pdf1, a palmitoyl protein thioesterase 1 Ortholog in Schizosaccharomyces pombe: a yeast model of infantile Batten disease.

Authors:  Steve K Cho; Sandra L Hofmann
Journal:  Eukaryot Cell       Date:  2004-04

2.  International Veterinary Epilepsy Task Force's current understanding of idiopathic epilepsy of genetic or suspected genetic origin in purebred dogs.

Authors:  Velia-Isabel Hülsmeyer; Andrea Fischer; Paul J J Mandigers; Luisa DeRisio; Mette Berendt; Clare Rusbridge; Sofie F M Bhatti; Akos Pakozdy; Edward E Patterson; Simon Platt; Rowena M A Packer; Holger A Volk
Journal:  BMC Vet Res       Date:  2015-08-28       Impact factor: 2.741

3.  Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis.

Authors:  A Kolicheski; H L Barnes Heller; S Arnold; R D Schnabel; J F Taylor; C A Knox; T Mhlanga-Mutangadura; D P O'Brien; G S Johnson; J Dreyfus; M L Katz
Journal:  J Vet Intern Med       Date:  2016-12-23       Impact factor: 3.333

4.  Genotypic and allelic frequencies of MDR1 gene in dogs in Italy.

Authors:  Stefano Paolo Marelli; Michele Polli; Stefano Frattini; Matteo Cortellari; Rita Rizzi; Paola Crepaldi
Journal:  Vet Rec Open       Date:  2020-06-24

5.  Neuronal ceroid lipofuscinosis in Border Collie dogs in Japan: clinical and molecular epidemiological study (2000-2011).

Authors:  Keijiro Mizukami; Takuji Kawamichi; Hiroshi Koie; Shinji Tamura; Satoru Matsunaga; Shigeki Imamoto; Miyoko Saito; Daisuke Hasegawa; Naoaki Matsuki; Satoshi Tamahara; Shigenobu Sato; Akira Yabuki; Hye-Sook Chang; Osamu Yamato
Journal:  ScientificWorldJournal       Date:  2012-07-31

6.  Visual system pathology in a canine model of CLN5 neuronal ceroid lipofuscinosis.

Authors:  Grace Robinson Kick; Elizabeth J Meiman; Julianna C Sabol; Rebecca E H Whiting; Juri Ota-Kuroki; Leilani J Castaner; Cheryl A Jensen; Martin L Katz
Journal:  Exp Eye Res       Date:  2021-06-30       Impact factor: 3.770

7.  Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.

Authors:  A Kolicheski; G S Johnson; D P O'Brien; T Mhlanga-Mutangadura; D Gilliam; J Guo; T D Anderson-Sieg; R D Schnabel; J F Taylor; A Lebowitz; B Swanson; D Hicks; Z E Niman; F A Wininger; M C Carpentier; M L Katz
Journal:  J Vet Intern Med       Date:  2016-05-20       Impact factor: 3.333

  7 in total

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