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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

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。

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