Rhabdomyolysis and paraneoplastic stiff-man syndrome with amphiphysin autoimmunity
Stiff‐Man syndrome (SMS) is a rare disease of the central nervous system characterized by chronic muscle rigidity and autoimmunity directed against synaptic antigens. In a subset of patients, generally positive for antiamphiphysin autoantibodies, SMS has an autoimmune paraneoplastic origin. Amphiphy...
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Veröffentlicht in: | Annals of neurology 2004-02, Vol.55 (2), p.286-290 |
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description | Stiff‐Man syndrome (SMS) is a rare disease of the central nervous system characterized by chronic muscle rigidity and autoimmunity directed against synaptic antigens. In a subset of patients, generally positive for antiamphiphysin autoantibodies, SMS has an autoimmune paraneoplastic origin. Amphiphysin isoforms are expressed at high levels in brain and skeletal muscle and often are overexpressed in breast cancer. We report here the occurrence of rhabdomyolysis in a patient with SMS, breast cancer, and antibodies that recognize both brain and muscle amphiphysin isoforms. Immunotherapy induced a remission of both rhabdomyolysis and SMS symptoms. Autoimmune rhabdomyolysis may represent a paraneoplastic complication of cancer patients with amphiphysin autoimmunity. |
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H. ; Einhäupl, Karl M. ; Solimena, Michele ; Valdueza, José M. ; De Camilli, Pietro</creator><creatorcontrib>Petzold, Gabor C. ; Marcucci, Melissa ; Butler, Margaret H. ; Van Landeghem, Frank K. H. ; Einhäupl, Karl M. ; Solimena, Michele ; Valdueza, José M. ; De Camilli, Pietro</creatorcontrib><description>Stiff‐Man syndrome (SMS) is a rare disease of the central nervous system characterized by chronic muscle rigidity and autoimmunity directed against synaptic antigens. In a subset of patients, generally positive for antiamphiphysin autoantibodies, SMS has an autoimmune paraneoplastic origin. Amphiphysin isoforms are expressed at high levels in brain and skeletal muscle and often are overexpressed in breast cancer. We report here the occurrence of rhabdomyolysis in a patient with SMS, breast cancer, and antibodies that recognize both brain and muscle amphiphysin isoforms. Immunotherapy induced a remission of both rhabdomyolysis and SMS symptoms. Autoimmune rhabdomyolysis may represent a paraneoplastic complication of cancer patients with amphiphysin autoimmunity.</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.10841</identifier><identifier>PMID: 14755734</identifier><identifier>CODEN: ANNED3</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Animals ; Autoantibodies - blood ; Autoimmunity ; Biological and medical sciences ; Blotting, Western ; Breast Neoplasms - complications ; Breast Neoplasms - physiopathology ; CHO Cells ; Cricetinae ; Female ; Fluorescent Antibody Technique ; Humans ; Immunoglobulins - therapeutic use ; Medical sciences ; Middle Aged ; Muscle, Skeletal - immunology ; Muscle, Skeletal - pathology ; Nerve Tissue Proteins - immunology ; Neurology ; Paraneoplastic Syndromes - drug therapy ; Paraneoplastic Syndromes - immunology ; Rhabdomyolysis - complications ; Rhabdomyolysis - drug therapy ; Rhabdomyolysis - immunology ; Spinal Cord - pathology ; Stiff-Person Syndrome - complications ; Stiff-Person Syndrome - drug therapy ; Stiff-Person Syndrome - immunology</subject><ispartof>Annals of neurology, 2004-02, Vol.55 (2), p.286-290</ispartof><rights>Copyright © 2004 American Neurological Association</rights><rights>2004 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3891-b76fe45a020532302357db1c2e873ed6d1601e71388849294b3bfb7eb301602d3</citedby><cites>FETCH-LOGICAL-c3891-b76fe45a020532302357db1c2e873ed6d1601e71388849294b3bfb7eb301602d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fana.10841$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fana.10841$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15764727$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14755734$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Petzold, Gabor C.</creatorcontrib><creatorcontrib>Marcucci, Melissa</creatorcontrib><creatorcontrib>Butler, Margaret H.</creatorcontrib><creatorcontrib>Van Landeghem, Frank K. H.</creatorcontrib><creatorcontrib>Einhäupl, Karl M.</creatorcontrib><creatorcontrib>Solimena, Michele</creatorcontrib><creatorcontrib>Valdueza, José M.</creatorcontrib><creatorcontrib>De Camilli, Pietro</creatorcontrib><title>Rhabdomyolysis and paraneoplastic stiff-man syndrome with amphiphysin autoimmunity</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>Stiff‐Man syndrome (SMS) is a rare disease of the central nervous system characterized by chronic muscle rigidity and autoimmunity directed against synaptic antigens. In a subset of patients, generally positive for antiamphiphysin autoantibodies, SMS has an autoimmune paraneoplastic origin. Amphiphysin isoforms are expressed at high levels in brain and skeletal muscle and often are overexpressed in breast cancer. We report here the occurrence of rhabdomyolysis in a patient with SMS, breast cancer, and antibodies that recognize both brain and muscle amphiphysin isoforms. Immunotherapy induced a remission of both rhabdomyolysis and SMS symptoms. Autoimmune rhabdomyolysis may represent a paraneoplastic complication of cancer patients with amphiphysin autoimmunity.</description><subject>Animals</subject><subject>Autoantibodies - blood</subject><subject>Autoimmunity</subject><subject>Biological and medical sciences</subject><subject>Blotting, Western</subject><subject>Breast Neoplasms - complications</subject><subject>Breast Neoplasms - physiopathology</subject><subject>CHO Cells</subject><subject>Cricetinae</subject><subject>Female</subject><subject>Fluorescent Antibody Technique</subject><subject>Humans</subject><subject>Immunoglobulins - therapeutic use</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Muscle, Skeletal - immunology</subject><subject>Muscle, Skeletal - pathology</subject><subject>Nerve Tissue Proteins - immunology</subject><subject>Neurology</subject><subject>Paraneoplastic Syndromes - drug therapy</subject><subject>Paraneoplastic Syndromes - immunology</subject><subject>Rhabdomyolysis - complications</subject><subject>Rhabdomyolysis - drug therapy</subject><subject>Rhabdomyolysis - immunology</subject><subject>Spinal Cord - pathology</subject><subject>Stiff-Person Syndrome - complications</subject><subject>Stiff-Person Syndrome - drug therapy</subject><subject>Stiff-Person Syndrome - immunology</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kMtOwzAQRS0EoqWw4AdQNiCxCNgeO06WVcVLKkWqeCwtJ3FUQ5yEOBHk7zG00BUbj6U5d2Z0EDom-IJgTC9VpfwnZmQHjQkHEsaUJbtojCFiISfARujAuVeMcRIRvI9GhAnOBbAxWi5XKs1rO9Tl4IwLVJUHjWpVpeumVK4zWeCfogitqgI3VHlbWx18mG4VKNusTLPysSpQfVcba_vKdMMh2itU6fTRpk7Q0_XV4-w2nD_c3M2m8zCDOCFhKqJCM64wxRwoYApc5CnJqI4F6DzKSYSJFgTiOGYJTVgKaZEKnQL2HZrDBJ2t5zZt_d5r10lrXKbL8vv43skYEwBBIw-er8GsrZ1rdSGb1ljVDpJg-S1QeoHyR6BnTzZD-9TqfEtujHngdAMol6my8Koy47YcFxETVHjucs19mFIP_2-U08X0d3W4ThjX6c-_hGrfZCRAcPmyuJH8_vp2Jp7ncglfvHCWVg</recordid><startdate>200402</startdate><enddate>200402</enddate><creator>Petzold, Gabor C.</creator><creator>Marcucci, Melissa</creator><creator>Butler, Margaret H.</creator><creator>Van Landeghem, Frank K. H.</creator><creator>Einhäupl, Karl M.</creator><creator>Solimena, Michele</creator><creator>Valdueza, José M.</creator><creator>De Camilli, Pietro</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Willey-Liss</general><scope>BSCLL</scope><scope>IQODW</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></search><sort><creationdate>200402</creationdate><title>Rhabdomyolysis and paraneoplastic stiff-man syndrome with amphiphysin autoimmunity</title><author>Petzold, Gabor C. ; Marcucci, Melissa ; Butler, Margaret H. ; Van Landeghem, Frank K. H. ; Einhäupl, Karl M. ; Solimena, Michele ; Valdueza, José M. ; De Camilli, Pietro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3891-b76fe45a020532302357db1c2e873ed6d1601e71388849294b3bfb7eb301602d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Animals</topic><topic>Autoantibodies - blood</topic><topic>Autoimmunity</topic><topic>Biological and medical sciences</topic><topic>Blotting, Western</topic><topic>Breast Neoplasms - complications</topic><topic>Breast Neoplasms - physiopathology</topic><topic>CHO Cells</topic><topic>Cricetinae</topic><topic>Female</topic><topic>Fluorescent Antibody Technique</topic><topic>Humans</topic><topic>Immunoglobulins - therapeutic use</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Muscle, Skeletal - immunology</topic><topic>Muscle, Skeletal - pathology</topic><topic>Nerve Tissue Proteins - immunology</topic><topic>Neurology</topic><topic>Paraneoplastic Syndromes - drug therapy</topic><topic>Paraneoplastic Syndromes - immunology</topic><topic>Rhabdomyolysis - complications</topic><topic>Rhabdomyolysis - drug therapy</topic><topic>Rhabdomyolysis - immunology</topic><topic>Spinal Cord - pathology</topic><topic>Stiff-Person Syndrome - complications</topic><topic>Stiff-Person Syndrome - drug therapy</topic><topic>Stiff-Person Syndrome - immunology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Petzold, Gabor C.</creatorcontrib><creatorcontrib>Marcucci, Melissa</creatorcontrib><creatorcontrib>Butler, Margaret H.</creatorcontrib><creatorcontrib>Van Landeghem, Frank K. H.</creatorcontrib><creatorcontrib>Einhäupl, Karl M.</creatorcontrib><creatorcontrib>Solimena, Michele</creatorcontrib><creatorcontrib>Valdueza, José M.</creatorcontrib><creatorcontrib>De Camilli, Pietro</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</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><jtitle>Annals of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Petzold, Gabor C.</au><au>Marcucci, Melissa</au><au>Butler, Margaret H.</au><au>Van Landeghem, Frank K. H.</au><au>Einhäupl, Karl M.</au><au>Solimena, Michele</au><au>Valdueza, José M.</au><au>De Camilli, Pietro</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Rhabdomyolysis and paraneoplastic stiff-man syndrome with amphiphysin autoimmunity</atitle><jtitle>Annals of neurology</jtitle><addtitle>Ann Neurol</addtitle><date>2004-02</date><risdate>2004</risdate><volume>55</volume><issue>2</issue><spage>286</spage><epage>290</epage><pages>286-290</pages><issn>0364-5134</issn><eissn>1531-8249</eissn><coden>ANNED3</coden><abstract>Stiff‐Man syndrome (SMS) is a rare disease of the central nervous system characterized by chronic muscle rigidity and autoimmunity directed against synaptic antigens. In a subset of patients, generally positive for antiamphiphysin autoantibodies, SMS has an autoimmune paraneoplastic origin. Amphiphysin isoforms are expressed at high levels in brain and skeletal muscle and often are overexpressed in breast cancer. We report here the occurrence of rhabdomyolysis in a patient with SMS, breast cancer, and antibodies that recognize both brain and muscle amphiphysin isoforms. Immunotherapy induced a remission of both rhabdomyolysis and SMS symptoms. Autoimmune rhabdomyolysis may represent a paraneoplastic complication of cancer patients with amphiphysin autoimmunity.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>14755734</pmid><doi>10.1002/ana.10841</doi><tpages>5</tpages></addata></record> |
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subjects | Animals Autoantibodies - blood Autoimmunity Biological and medical sciences Blotting, Western Breast Neoplasms - complications Breast Neoplasms - physiopathology CHO Cells Cricetinae Female Fluorescent Antibody Technique Humans Immunoglobulins - therapeutic use Medical sciences Middle Aged Muscle, Skeletal - immunology Muscle, Skeletal - pathology Nerve Tissue Proteins - immunology Neurology Paraneoplastic Syndromes - drug therapy Paraneoplastic Syndromes - immunology Rhabdomyolysis - complications Rhabdomyolysis - drug therapy Rhabdomyolysis - immunology Spinal Cord - pathology Stiff-Person Syndrome - complications Stiff-Person Syndrome - drug therapy Stiff-Person Syndrome - immunology |
title | Rhabdomyolysis and paraneoplastic stiff-man syndrome with amphiphysin autoimmunity |
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