Poulsen J H
Acta Neurol Scand. 1975 Sep;52(3):216-30. doi: 10.1111/j.1600-0404.1975.tb05776.x.
The urinary excretion of uronic acid and the electrophoretic composition of urinary glucosaminoglycans were studied in 10 members of a family, of which 3 had progressive familial myoclonus epilepsy. This seems to be the first detailed investigation of the excretion of urinary glucosaminoglycans in patients suffering from this neurologic disease. The uronic acid excretion was found to be increased in the affected family members exclusively, whereas the excretion of the unaffected members were found within the normal limits characterized in this investigation. The urinary glucosaminoglycans could be separated into 5 fractions by electrophoresis. One or two of these fractions were increased in the urines of the three affected family members, the clinically most affected member showing the most abnormal electrophoretic results. An abnormal electrophoretic distribution of fractions was also found in the urines of 5 other members, clinically not affected. Only the maternal part of the family (mother and maternal grandmother) was shown to have a normal electrophoretic distribution of urinary glucosaminoglycans. The implication of these electrophoretic differences in the paternal and maternal family on the conditions for the development of the disease is discussed. The two fractions in question (designated fraction-0.65 and fraction-0.71) have until now been regarded as glycoproteins, but the present results show that they are true glucosaminoglycans (acid mucopolysaccharides), probably of low sulphate content.
对一个家族的10名成员的尿中糖醛酸排泄情况及尿中糖胺聚糖的电泳组成进行了研究，其中3人患有进行性家族性肌阵挛性癫痫。这似乎是对患有这种神经疾病患者尿中糖胺聚糖排泄情况的首次详细调查。结果发现，仅患病家族成员的尿中糖醛酸排泄量增加，而未患病成员的排泄量在此研究确定的正常范围内。尿中糖胺聚糖可通过电泳分离为5个组分。在3名患病家族成员的尿液中，其中一两个组分增加，临床症状最严重的成员电泳结果异常最明显。在另外5名临床无症状的成员尿液中也发现了组分的异常电泳分布。只有家族的母系部分（母亲和外祖母）尿中糖胺聚糖的电泳分布正常。讨论了父系和母系家族中这些电泳差异对疾病发生条件的影响。到目前为止，所讨论的两个组分（分别指定为0.65组分和0.71组分）一直被认为是糖蛋白，但目前的结果表明它们是真正的糖胺聚糖（酸性粘多糖），硫酸盐含量可能较低。
