A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family

二维码有效期 120s

摘要篇首： Hereditary spastic paraplegia (HSP) (MIM#182600) is a group of heterogeneous neurodegenerative disorders, with 35 underlying loci recognized by the HGNC (HUGO Gene Nomenclature Committee;http://www.gene.ucl.ac.uk/nomenclature/) and 10 identified genes ( http://www.gene.ucl.ac.uk/cgi-bin/nomenclature/searchgenes.pl plus NIPA1, last search July 2006). The mode of inheritance may be autosomal dominant,autosomal recessive or X-linked. Among these, autosomal dominant spastic paraplegia (AD-HSP) is the most common type, accounting for 70%-80% of all families.1The disease is characterized by lower limb spasticity,hyperreflexia, progressive spastic gait and an extensor plantar response. Pes cavus is one of the commonly reported foot phenotypes.2

作者单位 Department of Neurology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510089, China ^[1] Laboratory for Cellular Transplantation, First Affiliated Hospital,Harbin Medical University, Harbin 150001, China ^[2] Department of Medical Genetics, Zhongshan Medical College, Sun Yat-Sen University, Guangzhou, 510089, China ^[3] Chinese National Human Genome Centre at Shanghai, Shanghai 201203, China ^[4] Hangzhou Genomics Centre, Hangzhou 310007, China ^[5] Department of Radiology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510089, China ^[6]

关键词 hereditary spastic paraplegia SPG3A atlastin mutation Chinese

分类号 R6

栏目名称 BRIEF REPORTS

发布时间 2008-03-03

基金项目

国家高技术研究发展计划(863计划) 广东省自然科学基金 the Guangzhou Municipal Science and Technology Bureau the PhD Station of Higher Education Fund of the Ministry of Education the China Medical Boarl of New York

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