Stiff-person syndrome with oculomotor and cerebellar disturbances

Abstract

Stiff-person syndrome is a rare sporadic disorder of the centralnervous system of unknown etiology. In the paper, a case of awoman with axial muscle rigidity, cerebellar and eye movementdisturbances is presented. High level of autoantibodies to glutamic acid decarboxylase is detected, and electromyographicexamination showed continuous motor unit activity of the axialmuscles at rest. On electrophoretic investigation of muscle tissueproteins, it was shown for the first time destruction of titin andnebulin, the proteins determining elastic properties of the muscle.

Keywords

• stiff person syndrome
• eye movement and cerebellar disturbances
• antibodies to glutamic acid decarboxylase
• titin and nebulin