Suppr超能文献

遗传性痉挛性共济失调的临床多态性与遗传异质性

[Clinical polymorphism and genetic heterogeneity of hereditary spastic ataxia].

作者信息

Dadali E L, Illarioshkin S N, Markova E D, Ivanova-Smolenskaia I A

出版信息

Zh Nevropatol Psikhiatr Im S S Korsakova. 1992;92(4):10-3.

PMID:1333696
Abstract

The authors systematized the descriptions of different ataxic degenerative syndromes associated with the development of pyramidal symptomatology. Demonstrated the genetic pleomorphism of hereditary spastic ataxias, described the clinical features characteristic of different types of inheritance of spastic ataxias. Based on the authors' observations and analysis of the reported data the following criteria for the diagnosis "spastic ataxia" are suggested: autosomal dominant inheritance type, with the onset on the 3rd-4th decade of life, cerebellar ataxia and dysarthria coupled with tendinous hyperreflexia and the rise of the muscular tone by the spastic type.

摘要

作者对与锥体症状发展相关的不同共济失调性退行性综合征的描述进行了系统化整理。证明了遗传性痉挛性共济失调的遗传多态性,描述了痉挛性共济失调不同遗传类型的临床特征。基于作者的观察和对报告数据的分析,提出了“痉挛性共济失调”的诊断标准如下:常染色体显性遗传类型,发病于生命的第3至4个十年,小脑共济失调和构音障碍,伴有腱反射亢进和痉挛型肌张力增高。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验