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一只患有β-半乳糖苷酶缺乏症的犬的神经元-内脏GM1神经节苷脂贮积症

Neuronal-visceral GM1 gangliosidosis in a dog with beta-galactosidase deficiency.

作者信息

Read D H, Harrington D D, Keenana T W, Hinsman E J

出版信息

Science. 1976 Oct 22;194(4263):442-5. doi: 10.1126/science.824730.

DOI:10.1126/science.824730
PMID:824730
Abstract

A 9-month-old dog with a history of progressive motor dysfunction was shown to have a deficiency in brain beta-galactosidase activity. The canine disease, like that of children with GM1 gangliosidosis, is characterized by accumulation of GM1 ganglioside in the brain, liver, and spleen, and membranous cytoplasmic bodies in neurons. The dog's pedigree suggests an autosomal recessive pattern of inheritance.

摘要

一只9个月大、有进行性运动功能障碍病史的狗被证明脑内β-半乳糖苷酶活性不足。这种犬类疾病与患有GM1神经节苷脂贮积症的儿童疾病相似,其特征是GM1神经节苷脂在脑、肝和脾中蓄积,以及神经元中出现膜性胞质小体。这只狗的谱系显示为常染色体隐性遗传模式。

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