Garen P D, Powers J M, Young G F, Lee V
Acta Neuropathol. 1986;70(3-4):327-32. doi: 10.1007/BF00686092.
Thirteen previous cases have been reported as neuronal intranuclear hyaline inclusion disease. The majority of patients have presented with movement disorders at less than 12 years of age followed by a progressive worsening of symptoms and, frequently, loss of cognitive function. Death has usually occurred by the second or third decade. Three have presented in the fifth through seventh decade with either movement disorders or dementia. These cases have been linked by the presence of eosinophilic neuronal intranuclear inclusions diffusely within the CNS and in peripheral ganglion cells. The patient in this case report also presented with a rapidly progressive movement disorder and at autopsy showed the characteristic intranuclear inclusions. Investigation of these inclusions did not reveal shared epitopes with neurofilaments or other intermediate filaments.
此前已有13例病例被报道为神经元核内透明包涵体病。大多数患者在12岁之前出现运动障碍，随后症状逐渐加重，且常常伴有认知功能丧失。死亡通常发生在第二个或第三个十年。有3例患者在第五至第七个十年出现运动障碍或痴呆。这些病例的共同点是在中枢神经系统和外周神经节细胞中广泛存在嗜酸性神经元核内包涵体。本病例报告中的患者也出现了快速进展的运动障碍，尸检显示有特征性的核内包涵体。对这些包涵体的研究未发现与神经丝或其他中间丝有共同的表位。
