title: Rhabdomyolysis and paraneoplastic stiff-man syndrome with amphiphysin autoimmunity.
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.
authors.affiliation: Department of Neurology, Charité Hospital, Humboldt University, Berlin, Germany.
authors.forename: Gabor C
authors.initials: GC
authors.lastname: Petzold
authors.forename: Melissa
authors.initials: M
authors.lastname: Marcucci
authors.forename: Margaret H
authors.initials: MH
authors.lastname: Butler
authors.forename: Frank K H
authors.initials: FK
authors.lastname: van Landeghem
authors.forename: Karl M
authors.initials: KM
authors.lastname: Einhäupl
authors.forename: Michele
authors.initials: M
authors.lastname: Solimena
authors.forename: José M
authors.initials: JM
authors.lastname: Valdueza
authors.forename: Pietro
authors.initials: P
authors.lastname: De Camilli
mesh_terms: D000818:Animals; D001323:Autoantibodies / Q000097:blood; D015551:Autoimmunity; D015153:Blotting, Western; D001943:Breast Neoplasms / Q000150:complications / Q000503:physiopathology; D016466:CHO Cells; D006224:Cricetinae; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007136:Immunoglobulins / Q000627:therapeutic use; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000276:immunology / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000276:immunology*; D010257:Paraneoplastic Syndromes / Q000188:drug therapy / Q000276:immunology*; D012206:Rhabdomyolysis / Q000150:complications / Q000188:drug therapy / Q000276:immunology*; D013116:Spinal Cord / Q000473:pathology; D016750:Stiff-Person Syndrome / Q000150:complications / Q000188:drug therapy / Q000276:immunology*
chemical_list: D001323:Autoantibodies; D007136:Immunoglobulins; D009419:Nerve Tissue Proteins; C075637:amphiphysin