Constantopoulos G, Dekaban A S, Steusing J K, Eldridge R
Acta Neurol Scand. 1977 Oct;56(4):291-8. doi: 10.1111/j.1600-0404.1977.tb01436.x.
Content, composition and molecular weight distribution of the urinary glycosaminoglycans (GAG) were determined in five patients with progressive myoclonus epilepsy (PME). In one patient (Family B) this syndrome was associated with cerebral Lafora bodies and in four siblings of Family A, no Lafora bodies were present in brain biopsy. Only one of the five patients had a moderate increase of urinary GAG excretion as expressed by 24-h output or creatinine. The heparan sulfate component of the GAG was moderately increased in two other patients. The molecular weight distribution of the urinary GAG was normal. The results do not support the contention that urinary GAG excretion is abnormal in PME. Among nine lysosomal enzymes in leucocytes, only the activity of alpha-mannosidase was increased 3-fold in the four siblings.
对五例进行性肌阵挛癫痫（PME）患者的尿糖胺聚糖（GAG）的含量、组成及分子量分布进行了测定。其中一名患者（B家族）该综合征与大脑拉福拉小体有关，而在A家族的四名兄弟姐妹中，脑活检未发现拉福拉小体。五名患者中只有一名患者的尿GAG排泄量有中度增加，以24小时排出量或肌酐表示。另外两名患者的GAG硫酸乙酰肝素成分有中度增加。尿GAG的分子量分布正常。结果不支持PME患者尿GAG排泄异常的观点。在白细胞中的九种溶酶体酶中，只有α-甘露糖苷酶的活性在四名兄弟姐妹中增加了3倍。
