The synaptic vesicle-associated protein amphiphysin is the 128-kd autoantigen of stiffman syndrome with breast cancer

Pietro De Camilli, Annette Thomas, Roxanne Cofiell, Franco Folli, Beate Lichte, Giovanni Piccolo, Hans Michael Meinck, Mario Austoni, Giuliano Fassetta, Gianfranco Bottazzo, David Bates, Niall Cartlidge, Michele Solimena, Manfred W. Kilimann

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255 Scopus citations

Abstract

Stiff-Man syndrome (SMS) is a rare disease of the central nervous system (CNS) characterized by progressive rigidity ofthe body musculature with superimposed painful spasms. An autoimmune origin of the disease has been proposed. In a caseload of more than 100 SMS patients, 60% were found positive for autoantibodies directed against the GABA-synthesizing enzyme glutamic acid decarboxylase (GAD). Few patients, all women affected by breast cancer, were negative for GAD autoantibodies but positive for autoantibodies directed against a 128-kD synaptic protein. We report here that this antigen is amphiphysin. GAD and amphiphysin are nonintrinsic membrane proteins that are concentrated in nerve terminals, where a pool of both proteins is associated with the cytoplasmic surface of synaptic vesicles. GAD and amphiphysin are the only two known targets of CNS autoimmunity with this distribution. This finding suggests a possible link between autoimmunity directed against rytoplasmic proteins associated with synaptic vesicles and SMS.

Original languageEnglish (US)
Pages (from-to)2219-2223
Number of pages5
JournalJournal of Experimental Medicine
Volume178
Issue number6
DOIs
StatePublished - Dec 1 1993

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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    Camilli, P. D., Thomas, A., Cofiell, R., Folli, F., Lichte, B., Piccolo, G., Meinck, H. M., Austoni, M., Fassetta, G., Bottazzo, G., Bates, D., Cartlidge, N., Solimena, M., & Kilimann, M. W. (1993). The synaptic vesicle-associated protein amphiphysin is the 128-kd autoantigen of stiffman syndrome with breast cancer. Journal of Experimental Medicine, 178(6), 2219-2223. https://doi.org/10.1084/jem.178.6.2219