Kato S, Kawata A, Oda M, Arai N, Komori T, Tanabe H
Department of Neurology, Tokyo Metropolitan Neurological Hospital, Japan.
Acta Neuropathol. 1996 Nov;92(5):528-33. doi: 10.1007/s004010050557.
A 65-year-old man with familial amyotrophic lateral sclerosis (ALS) with posterior column involvement showed fairly slow progression of the illness and lived with the aid of a respirator for 12 years. Neuropathological examinations showed simultaneous involvement of the pyramidal tract and lower motor neurons as well as degeneration in the Clarke's nucleus- spinocerebellar tract-middle root zone of the posterior column, the pallidoluysian system, the medullary reticular formation, and widespread anterolateral columns of the spinal cord. However, the patient had no Lewy-body-like hyaline inclusions, which are characteristic features of this form of familial ALS. Moreover, no abnormalities were found in his SOD1 cDNA sequences. There seem to be certain heterogeneities in familial ALS with posterior column involvement, and SOD1 gene abnormalities may be involved in the pathomechanism in rapidly progressing ALS, in which there are Lewy-body-like hyaline inclusions.
一名65岁患有伴有后柱受累的家族性肌萎缩侧索硬化症（ALS）的男性，病情进展相当缓慢，借助呼吸器存活了12年。神经病理学检查显示锥体束和下运动神经元同时受累，以及后柱的克拉克核 - 脊髓小脑束 - 中间神经根区、苍白球路易体系统、延髓网状结构和脊髓广泛的前外侧柱发生变性。然而，该患者没有路易体样透明包涵体，而这是这种家族性ALS形式的特征性表现。此外，在他的SOD1 cDNA序列中未发现异常。伴有后柱受累的家族性ALS似乎存在一定的异质性，SOD1基因异常可能参与了快速进展型ALS的发病机制，在这种类型的ALS中存在路易体样透明包涵体。
