A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family
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/nomen...
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| Veröffentlicht in: | Chinese medical journal 2007-05, Vol.120 (9), p.834-837 |
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| creator | Li, Xun-hua Song, Chun Chen, Su-qin Zhou, Yan Guo, Hui Zhou, Chun-long Yang, Zhi-yun Liang, Yin-xing Wang, Yi-ming |
| description | 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/nomenc lature/ 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. The 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. |
| doi_str_mv | 10.1097/00029330-200705010-00018 |
| format | Article |
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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. The 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.</description><identifier>ISSN: 0366-6999</identifier><identifier>EISSN: 2542-5641</identifier><identifier>DOI: 10.1097/00029330-200705010-00018</identifier><identifier>PMID: 17531128</identifier><language>eng</language><publisher>China: Department of Neurology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510089, China%Laboratory for Cellular Transplantation, First Affiliated Hospital,Harbin Medical University, Harbin 150001, China%Department of Medical Genetics, Zhongshan Medical College, Sun Yat-Sen University, Guangzhou, 510089, China%Chinese National Human Genome Centre at Shanghai, Shanghai 201203, China%Hangzhou Genomics Centre, Hangzhou 310007, China%Department of Radiology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510089, China</publisher><subject>Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; China - ethnology ; Evoked Potentials, Somatosensory ; Evolution, Molecular ; Female ; Foot Deformities, Congenital - genetics ; Genes, Dominant ; GTP Phosphohydrolases - genetics ; GTP-Binding Proteins ; Humans ; Male ; Membrane Proteins ; Middle Aged ; Mutation ; Spastic Paraplegia, Hereditary - genetics ; SPG3A突变 ; 汉族家系 ; 足部表型 ; 遗传性痉挛性截瘫</subject><ispartof>Chinese medical journal, 2007-05, Vol.120 (9), p.834-837</ispartof><rights>Copyright © Wanfang Data Co. 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All Rights Reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c421t-4926ceaf2c987206a6c6323a293458723c39e303dd589a21f17395df7df0fbe43</citedby><cites>FETCH-LOGICAL-c421t-4926ceaf2c987206a6c6323a293458723c39e303dd589a21f17395df7df0fbe43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Uhttp://image.cqvip.com/vip1000/qk/85656X/85656X.jpg</thumbnail><link.rule.ids>314,776,780,860,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17531128$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Li, Xun-hua</creatorcontrib><creatorcontrib>Song, Chun</creatorcontrib><creatorcontrib>Chen, Su-qin</creatorcontrib><creatorcontrib>Zhou, Yan</creatorcontrib><creatorcontrib>Guo, Hui</creatorcontrib><creatorcontrib>Zhou, Chun-long</creatorcontrib><creatorcontrib>Yang, Zhi-yun</creatorcontrib><creatorcontrib>Liang, Yin-xing</creatorcontrib><creatorcontrib>Wang, Yi-ming</creatorcontrib><title>A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family</title><title>Chinese medical journal</title><addtitle>Chinese Medical Journal</addtitle><description>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/nomenc lature/ 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. The 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.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>China - ethnology</subject><subject>Evoked Potentials, Somatosensory</subject><subject>Evolution, Molecular</subject><subject>Female</subject><subject>Foot Deformities, Congenital - genetics</subject><subject>Genes, Dominant</subject><subject>GTP Phosphohydrolases - genetics</subject><subject>GTP-Binding Proteins</subject><subject>Humans</subject><subject>Male</subject><subject>Membrane Proteins</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Spastic Paraplegia, Hereditary - genetics</subject><subject>SPG3A突变</subject><subject>汉族家系</subject><subject>足部表型</subject><subject>遗传性痉挛性截瘫</subject><issn>0366-6999</issn><issn>2542-5641</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFUV1v1DAQtBCIHoW_gCweeAv4I3bix9MJWqRKIAHP1p6zvvhI7DROWh2_HtMe9Gml1czszgwhlLMPnJnmI2NMGClZJRhrmGKcVWXF22dkI1QtKqVr_pxsmNS60saYC_Iq52MhKdXol-SCN0pyLtoNwS39_u1Kbum4LrCEFOl9WHoKNKY7HKhPaaFTjzEtpwlp8rTHGbuwwHyieYK8BEcnmGEa8BCAhliouz5EzEivIVIPYxhOr8kLD0PGN-d5SX5-_vRjd13dfL36stveVK4WfKlqI7RD8MKZthFMg3ZaCgnFa63KRjppUDLZdao1ILjnjTSq803nmd9jLS_J-0fde4ge4sEe0zrHctH-7t14fEjLlJyegNOcblfMix1DdjgMEDGt2ZZQleZMF2D7CHRzynlGb6c5jMW95cz-7cL-68L-78I-dFGob8831v2I3RPxHH4BvDtr9ykebkP5dw_ulw8DWlEXx6rW8g-d544r</recordid><startdate>20070505</startdate><enddate>20070505</enddate><creator>Li, Xun-hua</creator><creator>Song, Chun</creator><creator>Chen, Su-qin</creator><creator>Zhou, Yan</creator><creator>Guo, Hui</creator><creator>Zhou, Chun-long</creator><creator>Yang, Zhi-yun</creator><creator>Liang, Yin-xing</creator><creator>Wang, Yi-ming</creator><general>Department of Neurology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510089, China%Laboratory for Cellular Transplantation, First Affiliated Hospital,Harbin Medical University, Harbin 150001, China%Department of Medical Genetics, Zhongshan Medical College, Sun Yat-Sen University, Guangzhou, 510089, China%Chinese National Human Genome Centre at Shanghai, Shanghai 201203, China%Hangzhou Genomics Centre, Hangzhou 310007, China%Department of Radiology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510089, China</general><scope>2RA</scope><scope>92L</scope><scope>CQIGP</scope><scope>W91</scope><scope>~WA</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>2B.</scope><scope>4A8</scope><scope>92I</scope><scope>93N</scope><scope>PSX</scope><scope>TCJ</scope></search><sort><creationdate>20070505</creationdate><title>A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family</title><author>Li, Xun-hua ; Song, Chun ; Chen, Su-qin ; Zhou, Yan ; Guo, Hui ; Zhou, Chun-long ; Yang, Zhi-yun ; Liang, Yin-xing ; Wang, Yi-ming</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c421t-4926ceaf2c987206a6c6323a293458723c39e303dd589a21f17395df7df0fbe43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>China - ethnology</topic><topic>Evoked Potentials, Somatosensory</topic><topic>Evolution, Molecular</topic><topic>Female</topic><topic>Foot Deformities, Congenital - genetics</topic><topic>Genes, Dominant</topic><topic>GTP Phosphohydrolases - genetics</topic><topic>GTP-Binding Proteins</topic><topic>Humans</topic><topic>Male</topic><topic>Membrane Proteins</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Spastic Paraplegia, Hereditary - genetics</topic><topic>SPG3A突变</topic><topic>汉族家系</topic><topic>足部表型</topic><topic>遗传性痉挛性截瘫</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Li, Xun-hua</creatorcontrib><creatorcontrib>Song, Chun</creatorcontrib><creatorcontrib>Chen, Su-qin</creatorcontrib><creatorcontrib>Zhou, Yan</creatorcontrib><creatorcontrib>Guo, Hui</creatorcontrib><creatorcontrib>Zhou, Chun-long</creatorcontrib><creatorcontrib>Yang, Zhi-yun</creatorcontrib><creatorcontrib>Liang, Yin-xing</creatorcontrib><creatorcontrib>Wang, Yi-ming</creatorcontrib><collection>中文科技期刊数据库</collection><collection>中文科技期刊数据库-CALIS站点</collection><collection>中文科技期刊数据库-7.0平台</collection><collection>中文科技期刊数据库-医药卫生</collection><collection>中文科技期刊数据库- 镜像站点</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Wanfang Data Journals - Hong Kong</collection><collection>WANFANG Data Centre</collection><collection>Wanfang Data Journals</collection><collection>万方数据期刊 - 香港版</collection><collection>China Online Journals (COJ)</collection><collection>China Online Journals (COJ)</collection><jtitle>Chinese medical journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Li, Xun-hua</au><au>Song, Chun</au><au>Chen, Su-qin</au><au>Zhou, Yan</au><au>Guo, Hui</au><au>Zhou, Chun-long</au><au>Yang, Zhi-yun</au><au>Liang, Yin-xing</au><au>Wang, Yi-ming</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family</atitle><jtitle>Chinese medical journal</jtitle><addtitle>Chinese Medical Journal</addtitle><date>2007-05-05</date><risdate>2007</risdate><volume>120</volume><issue>9</issue><spage>834</spage><epage>837</epage><pages>834-837</pages><issn>0366-6999</issn><eissn>2542-5641</eissn><abstract>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/nomenc lature/ 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. The 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.</abstract><cop>China</cop><pub>Department of Neurology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510089, China%Laboratory for Cellular Transplantation, First Affiliated Hospital,Harbin Medical University, Harbin 150001, China%Department of Medical Genetics, Zhongshan Medical College, Sun Yat-Sen University, Guangzhou, 510089, China%Chinese National Human Genome Centre at Shanghai, Shanghai 201203, China%Hangzhou Genomics Centre, Hangzhou 310007, China%Department of Radiology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510089, China</pub><pmid>17531128</pmid><doi>10.1097/00029330-200705010-00018</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 0366-6999 |
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| language | eng |
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| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Adolescent Adult Aged Child Child, Preschool China - ethnology Evoked Potentials, Somatosensory Evolution, Molecular Female Foot Deformities, Congenital - genetics Genes, Dominant GTP Phosphohydrolases - genetics GTP-Binding Proteins Humans Male Membrane Proteins Middle Aged Mutation Spastic Paraplegia, Hereditary - genetics SPG3A突变 汉族家系 足部表型 遗传性痉挛性截瘫 |
| title | A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family |
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