Stiff-person syndrome with oculomotor and cerebellar disturbances

Abstract

Stiff-person syndrome is a rare sporadic disorder of the central nervous system of unknown etiology. In the paper, a case of a woman with axial muscle rigidity, cerebellar and eye movement disturbances is presented. High level of autoantibodies to glutamic acid decarboxylase is detected, and electromyographic examination showed continuous motor unit activity of the axial muscles at rest. On electrophoretic investigation of muscle tissue proteins, it was shown for the first time destruction of titin and nebulin, the proteins determining elastic properties of the muscle.