Johnson W G, Chutorian A, Miranda A
Neurology. 1977 Nov;27(11):1012-8. doi: 10.1212/wnl.27.11.1012.
A boy with mild hand tremor since age 2 1/2 was found at 4 to have cherry-red spots and mild trucal ataxia without seizures or dementia. Biochemically, he had striking hexosaminidase deficiency (serum: 4.6 percent of normal, 88.9 percent heat-labile; leukocyte: 2.2 percent of normal, 84.6 percent heat-labile; fibroblast 12.8 percent normal, 93.1 percent heat-labile). The residual hexosaminidase activity migrated electrophoretically in two bands. The major band comigrated with hexosaminidase A, the minor with hexosaminidase S. Hexosaminidase B was totally absent. The parents had partially reduced hexosaminidase with a decreased heat-stabile fraction. This disorder may result from a new mutation closely related to that causing Sandhoff-Jatzkewitz disease.
一名自2岁半起出现轻度手部震颤的男孩，4岁时被发现有樱桃红斑和轻度躯干共济失调，无癫痫发作或痴呆。生化检查显示，他有显著的己糖胺酶缺乏（血清：正常水平的4.6%，88.9%对热不稳定；白细胞：正常水平的2.2%，84.6%对热不稳定；成纤维细胞：正常水平的12.8%，93.1%对热不稳定）。残留的己糖胺酶活性在电泳中迁移为两条带。主要带与己糖胺酶A共迁移，次要带与己糖胺酶S共迁移。己糖胺酶B完全缺失。父母的己糖胺酶部分降低，热稳定部分减少。这种疾病可能是由一个与导致桑德霍夫-雅茨凯维茨病的新突变密切相关的突变引起的。
