Stiff-person syndrome with oculomotor and cerebellar disturbances


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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.

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N. Yakhno

A.Yа. Kozhevnikov Nervous Diseases Clinic, I.M. Sechenov Moscow Medical Academy, Moscow

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Email: platonova@neurology.ru
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V. Golubeva

A.Yа. Kozhevnikov Nervous Diseases Clinic, I.M. Sechenov Moscow Medical Academy, Moscow

Email: platonova@neurology.ru
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Yu. Mozolevsky

A.Yа. Kozhevnikov Nervous Diseases Clinic, I.M. Sechenov Moscow Medical Academy, Moscow

Email: platonova@neurology.ru
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O. Zinovyeva

A.Yа. Kozhevnikov Nervous Diseases Clinic, I.M. Sechenov Moscow Medical Academy, Moscow

Email: platonova@neurology.ru
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E. Katushkina

A.Yа. Kozhevnikov Nervous Diseases Clinic, I.M. Sechenov Moscow Medical Academy, Moscow

Email: platonova@neurology.ru
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B. Shenkman

Institute of Biomedical Problems, Russian Academy of Science, Moscow

Email: platonova@neurology.ru
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I. Chistyakov

Institute of Biomedical Problems, Russian Academy of Science, Moscow

Email: platonova@neurology.ru
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Z. Podlubnaya

Institute of Theoretical and Experimental Biophysics, Russian Academy of Science, Moscow

Email: platonova@neurology.ru
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I. Vikhlyanzev

Institute of Theoretical and Experimental Biophysics, Russian Academy of Science, Moscow

Email: platonova@neurology.ru
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版权所有 © 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., 2007

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