Dominant negative effect as a novel mechanism of SPAST gene mutation in a large family with hereditary spastic paraplegia  

作　　者：Ke Deng Haibo Ruan Feifei Yu Zhenle Pei Congjian Xu Shuo Zhang 

机构地区：[1]Shanghai Ji Ai Genetics&IVF Institute,Obstetrics and Gynecology Hospital of Fudan University,Shanghai 200000,China [2]Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases,Shanghai 200000,China [3]The First People’s Hospital of Wenling,Wenling,Zhejiang 317500,China [4]Rushan Hospital of Traditional Chinese Medicine,Rushan,Shandong 264599,China [5]Department of Obstetrics and Gynecology,Fudan University,Shanghai 200000,China.

出　　处：《Genes & Diseases》2024年第5期74-77,共4页基因与疾病（英文）

基　　金：the Shanghai Science and Technology Innovation Action Plan Program of China(No.20Y11907200,22Y11907200);the National Natural Science Foundation of China(No.82201807);the Municipal Human Resources Development Program for Outstanding Young Talents in Medical and Health Sciences in Shanghai,China(No.2022YQ075);Shanghai“Rising Stars of Medical Talents”Youth Development Program(China).

摘　　要：Hereditary spastic paraplegia(HSP)is a group of disorders with genetic heterogeneity,lower-extremity weakness,and spasticity are the most common signs and symptoms.SPAST is the most frequently disease-causing gene.Spastin is a microtubule-severing enzyme encoded by SPAST that cleaves long microtubules into short fragments by interacting with other proteins or membranes.Hereditary spastic paraplegia type 4(SPG4),which is autosomal dominant,is the clinical subtype associated with SPAST mutations.SPG4 accounts for up to one-third of all HSP cases and usually presents with isolated lower extremity spasticity,with or without bladder or sensory dysfunction.1 The main cause of SPG4 is believed to be spastin haploinsufficiency,which results from mutations in the SPAST gene.

关 键 词：BLADDER INSUFFICIENCY CLINICAL 

分 类 号：R682.22[医药卫生—骨科学]