| Project/Area Number |
13670630
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | JUNTENDO UNIVERSITY (2002-2003)
University of Tsukuba (2001) |
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Principal Investigator |
HAYASHI Akito Juntendo University School of Medicine, lecture, 医学部, 講師 (60180957)
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| Co-Investigator(Kenkyū-buntansha) |
OHKOSHI Norio Tsukuba University, Clinical Medicine, lecturer, 臨床医学系, 講師 (80203751)
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| Project Period (FY) |
2001 – 2003
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| Project Status |
Completed (Fiscal Year 2003)
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| Budget Amount *help |
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2003: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 2002: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 2001: ¥2,000,000 (Direct Cost: ¥2,000,000)
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| Keywords | Stiff-man syndrome / Anti-gephyrin antibody / Anti-amphiphysin antibody / Paraneoplastic syndrome / Anti-GAD antibody / Head retraction reflex / Issacs' syndrome |
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| Research Abstract |
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 GABAA 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.
We studied electrophysiologically patients who was suffered from stiff-man sunyrome. We demonstrated the comparison between stiff man syndrome and Isaacs' syndrome. And the abnormal head retraction reflex was obsereved in stiff-man syndrome, which was elicited by sensory input but also tapping on his face.
We studied 21 patients which were clinically diagnosed as stiff-man syndrome or PERM (progressive encephalomyelitis with rigidity and myoclonus). Only one patient had an anti-gephyrin autoantibodies in his serum, five out of 21 were revealed anti-amphiphysin antibodies, anti-GAD antibodies were recognized in three patients.
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