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

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。