• 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

单纯型(纯合型)遗传性痉挛性截瘫概述

Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview

作者信息

Hedera Peter

机构信息

Department of Neurology, University of Louisville, Louisville, Kentucky

PMID:20301682
Abstract

The purpose of this overview is to: 1.. Briefly describe the clinical characteristics of uncomplicated (pure) hereditary spastic paraplegia; 2.. Review the genetic causes of uncomplicated hereditary spastic paraplegia; 3.. Review the differential diagnosis of uncomplicated hereditary spastic paraplegia, which includes complicated hereditary spastic paraplegia with a focus on treatable genetic disorders; 4.. Provide an evaluation strategy to identify the genetic cause of uncomplicated hereditary spastic paraplegia in a proband (when possible); 5.. Review management of uncomplicated hereditary spastic paraplegia; 6.. Inform genetic counseling of family members of an individual with uncomplicated hereditary spastic paraplegia.

摘要

本综述的目的是

  1. 简要描述单纯型(纯合型)遗传性痉挛性截瘫的临床特征;2. 回顾单纯型遗传性痉挛性截瘫的遗传病因;3. 回顾单纯型遗传性痉挛性截瘫的鉴别诊断,包括伴有可治疗遗传性疾病的复杂型遗传性痉挛性截瘫;4. 提供一种评估策略,以确定先证者(如有可能)单纯型遗传性痉挛性截瘫的遗传病因;5. 回顾单纯型遗传性痉挛性截瘫的管理;6. 为单纯型遗传性痉挛性截瘫患者的家庭成员提供遗传咨询。

相似文献

1
Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview单纯型(纯合型)遗传性痉挛性截瘫概述
2
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.遗传性痉挛性截瘫:临床病理特征和新兴分子机制。
Acta Neuropathol. 2013 Sep;126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30.
3
AP-4-Associated Hereditary Spastic ParaplegiaAP-4相关遗传性痉挛性截瘫
4
A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.一个新的 Spastin 变异(p.A524P)导致了一个中国遗传性痉挛性截瘫家系。
Mol Biol Rep. 2024 Sep 4;51(1):951. doi: 10.1007/s11033-024-09880-0.
5
Hereditary Dystonia Overview遗传性肌张力障碍概述
6
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.1550例遗传性痉挛性截瘫先证者的临床和基因谱
Brain. 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386.
7
Hereditary Ataxia Overview遗传性共济失调概述
8
Long-Term Clinical Characterization of ENTPD1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review.
Int J Dev Neurosci. 2025 Aug;85(5):e70046. doi: 10.1002/jdn.70046.
9
Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia.SPAST、ATL1 和 REEP1 突变分析在韩国遗传性痉挛性截瘫患者中的应用。
J Clin Neurol. 2014 Jul;10(3):257-61. doi: 10.3988/jcn.2014.10.3.257. Epub 2014 Jul 3.
10
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.KIF5A基因卷曲螺旋结构域中的错义突变与迟发性遗传性痉挛性截瘫
Arch Neurol. 2006 Feb;63(2):284-7. doi: 10.1001/archneur.63.2.284.