Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Stiff-man syndrome: identification of 17 beta-hydroxysteroid dehydrogenase type 4 as a novel 80-kDa antineuronal antigen.

Authors: Dinkel, K  Rickert, M  Moller, G  Adamski, J  Meinck, HM  Richter, W 
Citation: Dinkel K, etal., J Neuroimmunol. 2002 Sep;130(1-2):184-93.
Pubmed: (View Article at PubMed) PMID:12225901

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.


Disease Annotations
Gene Ontology Annotations
Objects Annotated

Additional Information

RGD Object Information
RGD ID: 10411898
Created: 2015-11-10
Species: All species
Last Modified: 2015-11-10
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.