• Ryo Tomioka and Keiko Tanaka.
• Department of Neurology, Kanazawa Medical University, Japan.
• Brain Nerve. 2013 Apr 1;65(4):395-400.

AbstractCentral nervous system hyperexcitability disorders, known as stiff-man/person syndrome (SPS), are thought to be related to the regulatory disturbance of inhibitory synaptic transmission of motor neurons in the brainstem and spinal cord. SPS is characterized by stiffness and spasms of the axis and limbs and is divided into two clinical subgroups: classic SPS, which affects the lumbar, trunk, and proximal limb muscles, and SPS-plus syndrome. The latter comprises (1) the stiff-limb subtype, in which symptom is limited to the lower limbs; (2) jerking stiff-man syndrome, characterized by chronically progressive stiffness and myoclonus; and (3) acute-onset and progressive encephalomyelitis with rigidity and myoclonus. Almost 80% of patients with classic SPS harbor autoantibodies against glutamic acid decarboxylase 65 (GAD65). In approximately 30-40% of patients, SPS accompanies type I diabetes, and anti-GAD65 antibodies are detected frequently in type I diabetes. However, the antibody-recognizing epitopes might be different between SPS and diabetes. Other autoantibodies against glycine receptor α1 (12% of patients with SPS) and GABA(A)-receptor associated protein (70% of patients with SPS) have been reported. In paraneoplastic SPS, anti-amphiphysin antibodies have been shown in patients with breast cancer or small cell lung cancer. One case of mediastinal tumor with anti-gephyrin antibodies has also been reported. However, the roles of these autoantibodies in the pathomechanisms of SPS have not yet been elucidated.

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