CLINICAL AND GENETIC VARIATIONS IN THE SYNDROME OF ADULT GM2 GANGLIOSIDOSIS RESULTING FROM HEXOSAMINIDASE-A DEFICIENCY
CLINICAL AND GENETIC VARIATIONS IN THE SYNDROME OF ADULT GM2 GANGLIOSIDOSIS RESULTING FROM HEXOSAMINIDASE-A DEFICIENCY
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DOI：
10.1002/ana.410160105
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发表时间：
1984-01-01
影响因子：
11.2
通讯作者：
NAVON, R
中科院分区：
文献类型：
--
作者：
ARGOV, Z;NAVON, R
来自3个家族的6名患者患上了由严重β-葡糖苷酸引起的成人GM 2神经节苷脂沉积症。氨基己糖苷酶A缺乏症。临床表现在不同的家庭之间和家庭内，包括脊髓小脑，各种运动神经元和小脑连接综合征。每个家庭都出现了精神病。1个家系中有3代发病。成人GM 2神经节苷脂沉积症的表型是可变的，不能形成遗传分类的基础。详细的氨基己糖苷酶测定8例患者从5个家庭显示所有患者有少量的氨基己糖苷酶A（约15%的正常），与氨基己糖苷酶I同工酶显着增加。
Six patients from 3 families developed adult GM2 gangliosidosis resulting from severe .beta.-hexosaminidase A deficiency. The clinical picture varied between and within families and included spinocerebellar, various motor neuron and cerebellar connection syndromes. Psychosis appeared in each family. Involvement of 3 generations was recorded in 1 family. The phenotype of adult GM2 gangliosidosis is variable and cannot form a basis for genetic classification. Detailed hexosaminidase determinations in 8 patients from 5 families revealed all patients to have minor quantities of hexosaminidase A (about 15% of normal), with marked increase in hexosaminidase I isozyme.