title: Stiff-man syndrome: identification of 17 beta-hydroxysteroid dehydrogenase type 4 as a novel 80-kDa antineuronal antigen.
abstract: Stiff-man syndrome (SMS) is a rare autoimmune disorder of the central nervous system associated with autoantibodies to glutamate decarboxylase (GAD). We isolated five brain-reactive human monoclonal antibodies, with reactivity distinct from GAD, from peripheral blood of a patient newly diagnosed with SMS. Two antibodies reacted with both Purkinje cells and ependymal cells, and precipitated an 80-kDa protein from rat neuronal primary cultures, which was also recognized by 12% (3/25) of SMS sera and 13% (2/15) of SMS cerebrospinal fluid (CSF) samples. The corresponding antigen was identified as 17 beta-hydroxysteroid dehydrogenase type 4 and may represent a possible novel target of autoimmunity in SMS.
authors.affiliation: Department of Orthopedic Surgery, University of Heidelberg, Schlierbacher Landstr. 200, 69118, Heidelberg, Germany.
authors.forename: Klaus
authors.initials: K
authors.lastname: Dinkel
authors.forename: Mathias
authors.initials: M
authors.lastname: Rickert
authors.forename: Gabriele
authors.initials: G
authors.lastname: Möller
authors.forename: Jerzy
authors.initials: J
authors.lastname: Adamski
authors.forename: Hans-Michael
authors.initials: HM
authors.lastname: Meinck
authors.forename: Wiltrud
authors.initials: W
authors.lastname: Richter
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000276:immunology*; D000595:Amino Acid Sequence; D000818:Animals; D000911:Antibodies, Monoclonal / Q000097:blood / Q000276:immunology / Q000302:isolation & purification; D001323:Autoantibodies / Q000097:blood / Q000276:immunology* / Q000302:isolation & purification; D002478:Cells, Cultured; D002490:Central Nervous System / Q000276:immunology* / Q000503:physiopathology; D004746:Enoyl-CoA Hydratase; D004958:Estradiol / Q000378:metabolism; D005260:Female; D005333:Fetus; D006801:Humans; D006836:Hydro-Lyases; D051379:Mice; D008875:Middle Aged; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes; D009474:Neurons / Q000201:enzymology / Q000276:immunology*; D064029:Peroxisomal Multifunctional Protein-2; D011689:Purkinje Cells / Q000201:enzymology / Q000276:immunology; D051381:Rats; D017208:Rats, Wistar; D011993:Recombinant Fusion Proteins / Q000276:immunology; D016750:Stiff-Person Syndrome / Q000097:blood / Q000201:enzymology* / Q000276:immunology*
chemical_list: D000911:Antibodies, Monoclonal; D001323:Autoantibodies; D009097:Multienzyme Complexes; D011993:Recombinant Fusion Proteins; D004958:Estradiol; D015067:17-Hydroxysteroid Dehydrogenases; C491288:Hsd17b4 protein, mouse; C491286:Hsd17b4 protein, rat; D006836:Hydro-Lyases; D064029:Peroxisomal Multifunctional Protein-2; C104587:HSD17B4 protein, human; D004746:Enoyl-CoA Hydratase