Rigidity and spasms from autoimmune encephalomyelopathies: stiff-person syndrome.
Stiff-person syndrome (SPS) is a disorder characterized by progressive muscle rigidity with superimposed painful muscle spasms and gait impairment due to continuous motor activity. Evidence has accumulated in favor of SPS representing an autoimmune, predominantly encephalomyelopathic disorder resulting from B-cell-mediated clonal production of autoantibodies against presynaptic inhibitory epitopes on the enzyme glutamic acid decarboxylase (GAD) and the synaptic membrane protein amphiphysin. Recognition of the clinical spectrum of SPS is important, particularly the upper-limb, cervical, and cranial nerve involvement that occurs in paraneoplastic variants. The correlation between antibody levels and severity of disease offers evidence for a pathogenic role for the anti-GAD and anti-amphiphysin autoantibodies. The scarcity of neuropathological correlates stand in sharp contrast with the severity of the disability in affected individuals and suggests that functional impairment of inhibitory circuits without structural damage is sufficient to develop the full clinical spectrum of SPS. The rarity of this condition limits the feasibility of controlled clinical trials in the treatment of SPS, but the available evidence suggest that drugs that increase cortical and spinal inhibition such as benzodiazepines and drugs that provide immune modulation such as intravenous immunoglobulin, plasmapheresis, and prednisone are effective treatments.
Espay
Alberto J
AJ
Department of Neurology, Neuroscience Institute, Movement Disorders Center, University of Cincinnati, Cincinnati, Ohio, USA.
Chen
Robert
R
D001323:Autoantibodies / Q000097:blood; D020274:Autoimmune Diseases of the Nervous System / Q000150:complications*; D003937:Diagnosis, Differential; D004679:Encephalomyelitis / Q000150:complications* / Q000276:immunology; D005968:Glutamate Decarboxylase / Q000276:immunology; D006801:Humans; D009127:Muscle Rigidity / Q000276:immunology* / Q000503:physiopathology; D013035:Spasm / Q000276:immunology* / Q000503:physiopathology; D016750:Stiff-Person Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000276:immunology
D001323:Autoantibodies; D005968:Glutamate Decarboxylase