title: 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.affiliation: Laboratory of Internal Medicine, Department of Veterinary Clinical Sciences, Graduate School of Veterinary Medicine, Hokkaido University.
authors.forename: Osamu
authors.initials: O
authors.lastname: Yamato
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Masuoka
authors.forename: Madoka
authors.initials: M
authors.lastname: Yonemura
authors.forename: Ayano
authors.initials: A
authors.lastname: Hatakeyama
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Satoh
authors.forename: Asogi
authors.initials: A
authors.lastname: Kobayashi
authors.forename: Masanari
authors.initials: M
authors.lastname: Nakayama
authors.forename: Tomoya
authors.initials: T
authors.lastname: Asano
authors.forename: Toru
authors.initials: T
authors.lastname: Shoda
authors.forename: Masahiro
authors.initials: M
authors.lastname: Yamasaki
authors.forename: Kenji
authors.initials: K
authors.lastname: Ochiai
authors.forename: Takashi
authors.initials: T
authors.lastname: Umemura
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Maede
mesh_terms: D000375:Aging; D000818:Animals; D004195:Disease Models, Animal; D004283:Dog Diseases / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology*; D004285:Dogs; D005260:Female; D016537:Gangliosidosis, GM1 / Q000150:complications / Q000473:pathology / Q000503:physiopathology* / Q000662:veterinary*; D008297:Male; D009043:Motor Activity; D010375:Pedigree; D001616:beta-Galactosidase / Q000172:deficiency*
chemical_list: D001616:beta-Galactosidase