Grover W D, Tucker S H, Wenger D A
Ann Neurol. 1978 Mar;3(3):281-3. doi: 10.1002/ana.410030316.
The clinical features in 2 second cousins with neuronopathic Gaucher disease include slowly progressive ataxia, spasticity, myoclonus, and seizures with relative preservation of intellectual function. Organomegaly was noted only in Patient 1. Both patients had diffuse slowing with paroxysmal features in electroencephalograms and a deficiency of beta-glucosidase activity in leukocytes and skin fibroblast cultures. The parents of Patient 1 and the related father of Patient 2 had levels of beta-glucosidase activity consistent with the carrier state for Gaucher disease. The value of beta-glucosidase activity in the mother of Patient 2 suggests a different mutation, the result being a defective enzyme component not detectable by measuring total activity.
2名患有神经病变型戈谢病的表亲的临床特征包括缓慢进展的共济失调、痉挛、肌阵挛和癫痫发作，同时智力功能相对保留。仅在患者1中发现器官肿大。两名患者脑电图均有弥漫性减慢并伴有阵发性特征，白细胞和皮肤成纤维细胞培养物中β-葡萄糖苷酶活性缺乏。患者1的父母及患者2的相关父亲的β-葡萄糖苷酶活性水平与戈谢病携带者状态一致。患者2母亲的β-葡萄糖苷酶活性值提示存在不同的突变，结果是通过测量总活性无法检测到有缺陷的酶成分。
