摘要
本文报告2例由SPG7基因突变所致遗传性痉挛性截瘫7型(spastic paraplegia,SPG7)病例。2例患者均为中年男性,表现为成年起病的进行性加重的痉挛性步态、构音障碍及共济失调。此外,家系1先证者合并有二便功能障碍。家系2先证者还伴有癫痫发作,其辅助检查提示小脑轻度萎缩,并伴有部分感觉神经受损和肌肉的神经源性损害。全外显子测序提示二人均由SPG7复合杂合突变所致。目前,本病以对症支持治疗为主。通过对相关文献进行回顾,总结了本病的基因型和表型特点,以期进一步提高对该病的认识,并为临床诊治提供参考。
This study reports two cases of spastic paraplegia type 7(SPG7)caused by mutations in the SPG7 gene.Both were middle-aged males with adult-onset progressive spastic gait,dysarthria and ataxia.The proband in family 1 had urinary and defecation disorder.The proband in family 2 had epilepsy,cerebellar atrophy,partial sensory dysfunction and neurogenic damage of muscle.In both cases,whole exome sequencing identified compound heterozygous mutations in SPG7 gene.The main therapy is symptomatic treatment for this disease.We aim to increase the awareness and clinical diagnosis of SPG7 by literature review and further summarizing the genotypic and phenotypic characteristics of the disease.
作者
蒋凯丽
朱泽宇
钟平
曹立
田沃土
JIANG kaili;ZHU zeyu;ZHONG ping;CAO li;TIAN wotu(Department of Neurology,Shanghai Jiao Tong University Affiliated Sixth People's Hospital,Shanghai 200233,China)
出处
《中国神经精神疾病杂志》
CAS
CSCD
北大核心
2022年第5期315-320,共6页
Chinese Journal of Nervous and Mental Diseases
基金
国家自然科学基金(编号:81870889,82071258)。
作者简介
通信作者:田沃土,(E-mail:tianwt@rjlab.cn);蒋凯丽.Tel:021-24056187.
