Mouren M C, Roger J
Arch Fr Pediatr. 1979 Mar;36(3):268-77.
This study reviews 99 anatomically verified case of Lafora body disease (82 from the literature and 17 personal cases). The clinical symptoms of the disease are characterised by the triad; epilepsy, myoclonus and dementia. An anatomical and histochemical study has been undertaken and as a result emphasis is given to recent hypotheses that suggest there are similarities with Type IV glycogen storage disease (Andersen's disease) which, although clinically distinct, has the same enzyme defect.
本研究回顾了99例经解剖学证实的拉福拉体病病例(82例来自文献,17例为个人病例)。该疾病的临床症状以三联征为特征,即癫痫、肌阵挛和痴呆。已开展解剖学和组织化学研究,结果强调了最近的假说,即该病与IV型糖原贮积病(安德森病)存在相似之处,尽管两者临床症状不同,但酶缺陷相同。