Mitsumoto H, Sliman R J, Schafer I A, Sternick C S, Kaufman B, Wilbourn A, Horwitz S J
Ann Neurol. 1985 Apr;17(4):378-85. doi: 10.1002/ana.410170413.
We studied three patients from two unrelated families with adult hexosaminidase A deficiency. A 30-year-old, non-Jewish proband in the first family had juvenile amyotrophic lateral sclerosis that evolved to mild dementia, ataxia, and axonal (neuronal) motor-sensory peripheral neuropathy. A 36-year-old Jewish proband in the second family had "pure" spinal muscular atrophy. One supposedly healthy brother of the first proband was found to have borderline IQ, mild spasticity, and ataxia but no evidence of motor neuron disease. Marked cerebellar atrophy was detected by head scans in all three patients. In both probands electromyograms were characterized by prominent, complex repetitive discharges in many muscles. Hexosaminidase A activities against the artificial substrate were similar to those reported in infantile Tay-Sachs disease; however, the hexosaminidase A level against GM2 substrates was higher than that found in infantile Tay-Sachs disease. The hexosaminidase A levels of the parents were in the heterozygous range. Motor neuron disease in our patients and in those previously described appears to be part of a multisystem degeneration of the nervous system.
我们研究了来自两个无亲缘关系家庭的三名患有成人型己糖胺酶A缺乏症的患者。第一个家庭中有一名30岁的非犹太先证者，患有青少年型肌萎缩侧索硬化症，后发展为轻度痴呆、共济失调和轴索性（神经元性）运动感觉性周围神经病。第二个家庭中有一名36岁的犹太先证者，患有“纯”脊髓性肌萎缩症。发现第一个先证者的一名看似健康的兄弟智商处于临界水平，有轻度痉挛和共济失调，但无运动神经元病的证据。通过头部扫描发现，所有三名患者均有明显的小脑萎缩。两名先证者的肌电图特征均为许多肌肉中出现明显的复杂重复放电。针对人工底物的己糖胺酶A活性与婴儿型泰-萨克斯病中报道的活性相似；然而，针对GM2底物的己糖胺酶A水平高于婴儿型泰-萨克斯病中的水平。父母的己糖胺酶A水平处于杂合范围内。我们的患者以及先前描述的患者中的运动神经元病似乎是神经系统多系统退化的一部分。
