Clinical and clinico-pathologic characteristics of Shiba dogs with a deficiency of lysosomal acid beta-galactosidase: a canine model of human GM1 gangliosidosis.

Abstract	The present study was conducted to determine the clinical and clinico-pathologic characteristics of Shiba dogs with GM1 gangliosidosis, which is due to an autosomal recessively inherited deficiency of lysosomal acid beta-galactosidase activity. Clinical and clinico-pathological features were investigated in 10 homozygous Shiba dogs with GM1 gangliosidosis. The age at onset was 5 to 6 months and the dogs manifested progressive neurologic signs including loss of balance, intermittent lameness, ataxia, dysmetria and intention tremor of the head. The dogs were unable to stand by 10 months of age due to a progression of ataxia and spasticity in all limbs. Corneal clouding, a visual defect, generalized muscle rigospasticity, emotional disorder and a tendency to be lethargic were observed at 9 to 12 months. The dogs became lethargic from 13 months of age. The survival period seemed to be 14 to 15 months. As a clinico-pathologic feature, lymphocytes with abnormally large vacuoles were observed in peripheral blood (30 to 50% of total lymphocytes) through the lifetime of the dogs. The clinical and clinico-pathologic characteristics of this animal model are useful for not only the development and testing of potential methods of therapy, but also the diagnosis of affected homozygous Shiba dogs in veterinary clinics.
Authors	Osamu Yamato, Yukiko Masuoka, Madoka Yonemura, Ayano Hatakeyama, Hiroyuki Satoh, Asogi Kobayashi, Masanari Nakayama, Tomoya Asano, Toru Shoda, Masahiro Yamasaki, Kenji Ochiai, Takashi Umemura, Yoshimitsu Maede
Journal	The Journal of veterinary medical science (J Vet Med Sci) Vol. 65 Issue 2 Pg. 213-7 (Feb 2003) ISSN: 0916-7250 [Print] Japan
PMID	12655116 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	beta-Galactosidase
Topics	Aging Animals Disease Models, Animal Dog Diseases (enzymology, pathology, physiopathology) Dogs Female Gangliosidosis, GM1 (complications, pathology, physiopathology, veterinary) Male Motor Activity Pedigree beta-Galactosidase (deficiency)

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