Kaufman M A, Dwork A J, Willson N J, John S, Liu J D
Department of Neuropathology and Neurotoxicology, New York State Psychiatric Institute, NY 10032.
Neurology. 1993 Jun;43(6):1246-8. doi: 10.1212/wnl.43.6.1246.
We describe a patient with progressive myoclonus epilepsy (late-onset Lafora's disease). Onset was in early adult life, and death was at age fifty-four. The initial symptoms were epileptic seizures and progressive dementia, with later occurrence of myoclonus. Lafora bodies were ubiquitous and in neuronal perikarya in many areas. Dust-like granular bodies predominated in the neuropil of cerebral cortex, substantia nigra, and striatum. Abnormal deposits were also found in the myocardium.
我们描述了一名患有进行性肌阵挛癫痫(迟发性拉福拉病)的患者。发病于成年早期,54岁时死亡。最初症状为癫痫发作和进行性痴呆,随后出现肌阵挛。拉福拉小体广泛存在,在许多区域的神经元胞体中也有。尘样颗粒体在大脑皮质、黑质和纹状体的神经毡中占主导。心肌中也发现了异常沉积物。