Human T-cell lymphotropic virus type 1(HTLV-1)-associated myelopathy/tropical spastic paraparesis(HAM/TSP) is a slowly progressive neurodegenerative disorder in which lesions of the central nervous system cause progre...Human T-cell lymphotropic virus type 1(HTLV-1)-associated myelopathy/tropical spastic paraparesis(HAM/TSP) is a slowly progressive neurodegenerative disorder in which lesions of the central nervous system cause progressive weakness, stiffness, and a lower limb spastic paraparesis. In some cases, polymyositis, inclusion bodymyositis, or amyotrophic lateral sclerosis-like syndromes are associated with HTLV-1. TSP was first described in Jamaica in 1888 and known as Jamaican peripheral neuritis before TSP was related to HTLV-1 virus, the first retrovirus being identified, and the disease is since named HAM/TSP. There is no established treatment program for HAM/TSP. Prevention is difficult in lowincome patients(i.e., HTLV-1 infected breast feeding mothers in rural areas, sex workers). Thus, there is a need for new therapeutic avenues. Therapeutic approaches must be based on a better understanding, not only of clinical and clinicopathological data, but also of the pathophysiology of the affection. Consequently, a better understanding of existing or newly developed animal models of HAM/TSP is a prerequisite step in the development of new treatments.展开更多
回顾性分析1例遗传性痉挛性截瘫91型(hereditary spastic paraplegia 91,SPG91)患儿的临床资料及遗传学特点,并检索相关文献进行复习。患儿男,8岁,步行运动姿势异常7年,呈现典型摇摆步态,全外显子测序发现患儿携带SPTAN1基因(NM_0011304...回顾性分析1例遗传性痉挛性截瘫91型(hereditary spastic paraplegia 91,SPG91)患儿的临床资料及遗传学特点,并检索相关文献进行复习。患儿男,8岁,步行运动姿势异常7年,呈现典型摇摆步态,全外显子测序发现患儿携带SPTAN1基因(NM_001130438.3)杂合变异c.77_103dup(p.T34_L35insHHRFKELST),父母均为野生型;经美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南判定为可能致病性变异(PS2+PM2_Supporting+PM4),该变异此前未见报道。患儿表现为下肢痉挛性截瘫导致的早发性步态异常、全面发育落后及注意缺陷和多动障碍,拓展了SPTAN1基因变异谱及表型谱。展开更多
文摘Human T-cell lymphotropic virus type 1(HTLV-1)-associated myelopathy/tropical spastic paraparesis(HAM/TSP) is a slowly progressive neurodegenerative disorder in which lesions of the central nervous system cause progressive weakness, stiffness, and a lower limb spastic paraparesis. In some cases, polymyositis, inclusion bodymyositis, or amyotrophic lateral sclerosis-like syndromes are associated with HTLV-1. TSP was first described in Jamaica in 1888 and known as Jamaican peripheral neuritis before TSP was related to HTLV-1 virus, the first retrovirus being identified, and the disease is since named HAM/TSP. There is no established treatment program for HAM/TSP. Prevention is difficult in lowincome patients(i.e., HTLV-1 infected breast feeding mothers in rural areas, sex workers). Thus, there is a need for new therapeutic avenues. Therapeutic approaches must be based on a better understanding, not only of clinical and clinicopathological data, but also of the pathophysiology of the affection. Consequently, a better understanding of existing or newly developed animal models of HAM/TSP is a prerequisite step in the development of new treatments.
文摘回顾性分析1例遗传性痉挛性截瘫91型(hereditary spastic paraplegia 91,SPG91)患儿的临床资料及遗传学特点,并检索相关文献进行复习。患儿男,8岁,步行运动姿势异常7年,呈现典型摇摆步态,全外显子测序发现患儿携带SPTAN1基因(NM_001130438.3)杂合变异c.77_103dup(p.T34_L35insHHRFKELST),父母均为野生型;经美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南判定为可能致病性变异(PS2+PM2_Supporting+PM4),该变异此前未见报道。患儿表现为下肢痉挛性截瘫导致的早发性步态异常、全面发育落后及注意缺陷和多动障碍,拓展了SPTAN1基因变异谱及表型谱。
