Clinical and Clinico-Pathologic Characteristics of Shiba Dogs with a Deficiency of Lysosomal Acid β-Galactosidase: A Canine Model of Human GM1 Gangliosidosis

Journal of Veterinary Medical Science

Masahiro YAMASAKI³  Kenji OCHIAI¹  Yoshimitsu MAEDE³  Toru SHODA³  Hiroyuki SATOH³  Ayano HATAKEYAMA³  Tomoya ASANO³  Asogi KOBAYASHI³  Masanari NAKAYAMA²  Takashi UMEMURA¹  Madoka YONEMURA³  Osamu YAMATO³  Yukiko MASUOKA³ 

[1] Laboratory of Comparative Pathology, Department of Veterinary Clinical Sciences, Graduate School of Veterinary Medicine, Hokkaido University;Nakayama Veterinary Hospital;Laboratory of Internal Medicine, Department of Veterinary Clinical Sciences, Graduate School of Veterinary Medicine, Hokkaido University

关键词: acid β-galactosidase deficiency;    β-galactosidosis;    GM1 gangliosidosis;    lysosomal storage disease;    Shiba dog;   

DOI  :  10.1292/jvms.65.213

学科分类：兽医学

来源: Japanese Society of Veterinary Science

【 摘 要 】

References(20)Cited-By(9)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 β-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.

【 授权许可】

Unknown