Autoimmunity to Gephyrin in Stiff-Man Syndrome
Stiff-Man syndrome (SMS) is a rare disease of the central nervous system (CNS) characterized by chronic rigidity, spasms, and autoimmunity directed against synaptic antigens, most often the GABA-synthesizing enzyme glutamic acid decarboxylase (GAD). In a subset of cases, SMS has an autoimmune parane...
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| Veröffentlicht in: | Neuron (Cambridge, Mass.) Mass.), 2000-05, Vol.26 (2), p.307-312 |
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| creator | Butler, Margaret Husta Hayashi, Akito Ohkoshi, Norio Villmann, Carmen Becker, Cord-Michael Feng, Guoping De Camilli, Pietro Solimena, Michele |
| description | Stiff-Man syndrome (SMS) is a rare disease of the central nervous system (CNS) characterized by chronic rigidity, spasms, and autoimmunity directed against synaptic antigens, most often the GABA-synthesizing enzyme glutamic acid decarboxylase (GAD). In a subset of cases, SMS has an autoimmune paraneoplastic origin. We report here the identification of high-titer autoantibodies directed against gephyrin in a patient with clinical features of SMS and mediastinal cancer. Gephyrin is a cytosolic protein selectively concentrated at the postsynaptic membrane of inhibitory synapses, where it is associated with GABA
A and glycine receptors. Our findings provide new evidence for a close link between autoimmunity directed against components of inhibitory synapses and neurological conditions characterized by chronic rigidity and spasms. |
| doi_str_mv | 10.1016/S0896-6273(00)81165-4 |
| format | Article |
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A and glycine receptors. Our findings provide new evidence for a close link between autoimmunity directed against components of inhibitory synapses and neurological conditions characterized by chronic rigidity and spasms.</description><subject>Animals</subject><subject>Autoantibodies - analysis</subject><subject>Autoimmunity</subject><subject>Carrier Proteins - immunology</subject><subject>CHO Cells</subject><subject>Cricetinae</subject><subject>gephyrin</subject><subject>Humans</subject><subject>Male</subject><subject>Mediastinal Neoplasms - complications</subject><subject>Membrane Proteins - immunology</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>stiff man syndrome</subject><subject>Stiff-Person Syndrome - complications</subject><subject>Stiff-Person Syndrome - immunology</subject><subject>Stiff-Person Syndrome - physiopathology</subject><issn>0896-6273</issn><issn>1097-4199</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkF1LwzAUhoMobk5_grIr0YvOnLb5upIxdAoTL6bXoUtOMbK2M2mF_nuzTcS7wYGci-fNmzyEXAKdAAV-t6RS8YSnIruh9FYCcJbkR2QIVIkkB6WOyfAPGZCzED4phZwpOCUDoDJTGYMhmUy7tnFV1dWu7cdtM57j5qP3rh7HWbauLJOXIm59bX1T4Tk5KYt1wIvfc0TeHx_eZk_J4nX-PJsuEsMoaxMrOI9dqSzSleEKS4bKoixzWWQrLplgChVlIi0tWsykUZAKIQ3DwgoZHzci1_t7N7756jC0unLB4Hpd1Nh0QQuAXOXxZ4dAEIzxnPIIsj1ofBOCx1JvvKsK32ugemtU74zqrS5Nqd4Z1XnMXf0WdKsK7b_UXmEE7vcARh_fDr0OxmFt0DqPptW2cQcqfgB0loQM</recordid><startdate>20000501</startdate><enddate>20000501</enddate><creator>Butler, Margaret Husta</creator><creator>Hayashi, Akito</creator><creator>Ohkoshi, Norio</creator><creator>Villmann, Carmen</creator><creator>Becker, Cord-Michael</creator><creator>Feng, Guoping</creator><creator>De Camilli, Pietro</creator><creator>Solimena, Michele</creator><general>Elsevier Inc</general><scope>6I.</scope><scope>AAFTH</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>7T5</scope><scope>7TK</scope><scope>H94</scope><scope>7X8</scope></search><sort><creationdate>20000501</creationdate><title>Autoimmunity to Gephyrin in Stiff-Man Syndrome</title><author>Butler, Margaret Husta ; 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| subjects | Animals Autoantibodies - analysis Autoimmunity Carrier Proteins - immunology CHO Cells Cricetinae gephyrin Humans Male Mediastinal Neoplasms - complications Membrane Proteins - immunology Middle Aged Molecular Sequence Data stiff man syndrome Stiff-Person Syndrome - complications Stiff-Person Syndrome - immunology Stiff-Person Syndrome - physiopathology |
| title | Autoimmunity to Gephyrin in Stiff-Man Syndrome |
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