脊髓小脑变性：两名成年姐妹中己糖胺酶A和B缺乏症
Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters.
作者信息
Oonk J G, van der Helm H J, Martin J J
出版信息
Neurology. 1979 Mar;29(3):380-4. doi: 10.1212/wnl.29.3.380.
PMID:571983
Abstract
Two adult sisters had spinocerebellar degeneration. Biochemical studies revealed a very low activity of both fraction A and fraction B of the lysosomal enzyme, hexosaminidase, in serum and leukocytes. A skin biopsy showed lesions suggestive of neuronal storage disease. The disorder seems to be an adult form of GM2 gangliosidosis.
摘要
两名成年姐妹患有脊髓小脑变性。生化研究显示，血清和白细胞中的溶酶体酶己糖胺酶的A组分和B组分活性都非常低。皮肤活检显示有提示神经元贮积病的病变。这种疾病似乎是GM2神经节苷脂贮积症的成人形式。
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