Stiff-person syndrome with oculomotor and cerebellar disturbances

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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.

About the authors

Nikolay N. Yakhno

I.M. Sechenov First Moscow State Medical University (Sechenov University)

Email: zinovyevaolga@yandex.ru
Russian Federation, Moscow

V. V. Golubeva

I.M. Sechenov Moscow Medical Academy

Email: zinovyevaolga@yandex.ru
Russian Federation, Moscow

Yu. V. Mozolevsky

I.M. Sechenov Moscow Medical Academy

Email: zinovyevaolga@yandex.ru
Russian Federation, Moscow

O. E. Zinovyeva

1st Moscow State Medical University named after I.M. Sechenov

Author for correspondence.
Email: zinovyevaolga@yandex.ru
Russian Federation, Moscow

E. A. Katushkina

I.M. Sechenov Moscow Medical Academy,

Email: zinovyevaolga@yandex.ru
Russian Federation, Moscow

B. S. Shenkman

Institute of Biomedical Problems, Russian Academy of Science

Email: zinovyevaolga@yandex.ru
Russian Federation, Moscow

I. N. Chistyakov

Institute of Biomedical Problems, Russian Academy of Science

Email: zinovyevaolga@yandex.ru
Russian Federation, Moscow

Z. A. Podlubnaya

Institute of Theoretical and Experimental Biophysics, Russian Academy of Science

Email: zinovyevaolga@yandex.ru
Russian Federation, Moscow

I. M. Vikhlyanzev

Institute of Theoretical and Experimental Biophysics, Russian Academy of Science

Email: zinovyevaolga@yandex.ru
Russian Federation, Moscow

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Copyright (c) 2007 Yakhno N.N., Golubeva V.V., Mozolevsky Y.V., Zinovyeva O.E., Katushkina E.A., Shenkman B.S., Chistyakov I.N., Podlubnaya Z.A., Vikhlyanzev I.M.

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