Takahashi H, Oyanagi K, Ikuta F, Tanaka M, Yuasa T, Miyatake T
Department of Pathology, Niigata University, Japan.
J Neurol Sci. 1993 Dec 1;120(1):15-21. doi: 10.1016/0022-510x(93)90018-t.
We report a 57-year-old woman with familial amyotrophic lateral sclerosis (ALS) with posterior column involvement of 11 years duration. The patient had been on a respirator for more than 5 years before death. In addition to the well established pathology of this form of familial ALS, there were obvious degenerative changes in the brainstem tegmentum, including the reticular formation, cerebellar cortex, dentate and red nuclei, thalamus and mammillary body. Of great interest in this case was intracytoplasmic accumulation of neurofilaments in the remaining neurons in these areas, some of which, for instance, those in the oculomotor and abducens nuclei, still showed only minimal loss. This patient had survived considerably beyond the point of respiratory failure, which is the final stage in the natural history of the disease. We considered that in this patient the underlying degenerative process of the disease had become manifested in wider areas than recognized previously during the prolonged clinical course due to respiratory support. However, whether or not such widespread degeneration would occur in all patients with this disease who survive longer with the help of respiratory support awaits further studies.
我们报告了一名57岁患有家族性肌萎缩侧索硬化症（ALS）且伴有后柱受累达11年的女性患者。该患者在死亡前已使用呼吸机超过5年。除了这种家族性ALS的典型病理改变外，脑干被盖区存在明显的退行性变化，包括网状结构、小脑皮质、齿状核和红核、丘脑及乳头体。该病例中一个非常有趣的现象是这些区域剩余神经元内神经丝的胞质内积聚，其中一些，例如动眼神经核和展神经核中的神经元，仅表现出轻微的损失。该患者存活时间远超呼吸衰竭阶段，而呼吸衰竭是该疾病自然病程的最后阶段。我们认为，在该患者中，由于呼吸支持，疾病潜在的退行性过程在漫长的临床病程中比之前认识到的表现出更广泛的区域。然而，在呼吸支持下存活时间更长的所有该疾病患者是否都会出现如此广泛的退变，还有待进一步研究。
