施特吕姆佩尔氏纯家族性痉挛性截瘫：病例研究及文献综述
Strumpell's pure familial spastic paraplegia: case study and review of the literature.
作者信息
Holmes G L, Shaywitz B A
出版信息
J Neurol Neurosurg Psychiatry. 1977 Oct;40(10):1003-8. doi: 10.1136/jnnp.40.10.1003.
Abstract
A family with pure Strumpell's familial paraplegia is presented. There were 11 afflicted members involving three generations. The mode of inheritance was dominant, the onset in the first decade, and in this family the disease was mild. Literature data from 104 families with 536 members dating from 1880 are tabulated. This report confirms others regarding mode of inheritance, age of onset, distribution between sexes, and disease manifestations. However, contrary to other reports, we found the dominant and recessive form of pure Strumpell's familial spastic paraplegia to be similar in severity. There are now clinical and pathological data supporting the separation of pure Strumpell's familial spastic paraplegia from the other heredodegenerative diseases of the nervous system.
摘要
本文报告了一个患有纯斯特鲁普氏家族性截瘫的家族。该家族有三代人，共11名患者。遗传方式为显性遗传，发病于第一个十年，且在这个家族中病情较轻。文中列出了自1880年以来104个家族、536名成员的文献数据。本报告在遗传方式、发病年龄、性别分布和疾病表现方面证实了其他研究。然而，与其他报告相反，我们发现纯斯特鲁普氏家族性痉挛性截瘫的显性和隐性形式在严重程度上相似。目前有临床和病理数据支持将纯斯特鲁普氏家族性痉挛性截瘫与其他神经系统遗传性退行性疾病区分开来。
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