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施特吕姆佩尔家族性痉挛性截瘫:遗传学与神经病理学

Strümpell's familial spastic paraplegia: genetics and neuropathology.

作者信息

Behan W M, Maia M

出版信息

J Neurol Neurosurg Psychiatry. 1974 Jan;37(1):8-20. doi: 10.1136/jnnp.37.1.8.

Abstract

Uncomplicated Strümpell's disease (Strümpell's familial spastic paraplegia) with a dominant mode of inheritance is recorded in six families. The neuropathological findings in two cases from these families are given, bringing the total of similar histologically documented reports in the literature to 11. It is concluded that, although exact classification and identification of the many different hereditary neurological degenerative diseases is not yet practicable, cases conforming to the picture described by Strümpell can be separated from larger general group of familial spastic paraplegias, show a consistent clinical picture, and have a standard pathology. It is suggested that, since the lesions are confined to the longest fibre tracts in the central nervous system, the pathological process may be different from that found in the `system' degenerations.

摘要

六个家族记录了具有显性遗传模式的单纯性施特吕姆佩尔病(施特吕姆佩尔家族性痉挛性截瘫)。给出了其中两个家族病例的神经病理学发现,使文献中组织学记录相似的报告总数达到11份。得出的结论是,尽管对许多不同的遗传性神经退行性疾病进行准确分类和鉴定目前尚不可行,但符合施特吕姆佩尔所描述情况的病例可从较大的家族性痉挛性截瘫总体中区分出来,呈现出一致的临床症状,并具有标准的病理学特征。有人提出,由于病变局限于中枢神经系统中最长的纤维束,其病理过程可能与“系统性”退变不同。

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