• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

[Familial episodic ataxia].

作者信息

Bülau P, Fichsel H, Stefan H

出版信息

Fortschr Neurol Psychiatr. 1985 Nov;53(11):415-20. doi: 10.1055/s-2007-1001986.

DOI:10.1055/s-2007-1001986
PMID:4077004
Abstract

5 members of a family with periodic cerebellar dysfunctions are described. This rare disorder occurred in the early childhood and is characterised by episodes lasting minutes to hours with severe cerebellar ataxia, dysarthria, diplopie, nystagmus, vertigo and vegetative symptoms. The examinations between attacks are almost normal. The inheritance appears to be autosomal dominant. An atrophy of the cerebellar vermis was found in two patients. Syndrome and investigation results were compared to the seven papers according this disorder, which were published until now.

摘要

相似文献

1
[Familial episodic ataxia].
Fortschr Neurol Psychiatr. 1985 Nov;53(11):415-20. doi: 10.1055/s-2007-1001986.
2
Infantile cerebellar atrophy.婴儿小脑萎缩
Ann Neurol. 1985 Apr;17(4):399-402. doi: 10.1002/ana.410170417.
3
Eye movements in a familial vestibulocerebellar disorder.家族性前庭小脑疾病中的眼球运动
Neuropediatrics. 1993 Jun;24(3):117-22. doi: 10.1055/s-2008-1071526.
4
Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.以显著小脑萎缩为主的肌张力障碍:家族性肌张力障碍中的一种罕见表型。
Neurology. 2006 Nov 28;67(10):1769-73. doi: 10.1212/01.wnl.0000244484.60489.50.
5
[Cerebellar ataxia of Norman-Jaeken. Presentation of seven Spanish patients].[诺曼-杰克恩小脑共济失调。7例西班牙患者的病例报告]
Rev Neurol. 2006;42(12):723-8.
6
Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis.家族性周期性小脑共济失调:小脑细胞内pH稳态问题。
Ann Neurol. 1992 Feb;31(2):147-54. doi: 10.1002/ana.410310205.
7
Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature.小脑颗粒层的原发性变性。14例患者的研究及文献综述。
Neuropediatrics. 1994 Aug;25(4):183-90. doi: 10.1055/s-2008-1073020.
8
[Familial periodic ataxia with myokymia sensitive to acetazolamide: a family case].[对乙酰唑胺敏感的伴有肌纤维颤搐的家族性周期性共济失调:1例家族病例]
Rev Neurol. 1997 Dec;25(148):1925-7.
9
Familial cerebellar ataxia with sex-linked recessive inheritance.伴性连锁隐性遗传的家族性小脑共济失调。
Proc Aust Assoc Neurol. 1975;12:171-7.
10
Canine inherited ataxia.犬遗传性共济失调
Ann Neurol. 1981 May;9(5):492-8. doi: 10.1002/ana.410090512.