Familial case of ataxia with oculomotor apraxia: first observation in Russian population

Abstract

Hereditary ataxias represent a clinically and genetically heterogeneous group of disorders, modern classification of which is based on identification of a primary genetic and/or biochemical defect in examined patients and their family members. Recently, autosomal recessive ataxia with oculomotor apraxia was described; it is characterized by combination of coordination problems with specific abnormalities of voluntary eye movements and, probably, by high prevalence if a majority of populations. We presented the first description of this phenotype in Russia observed in two sibs (sisters). Biochemical screening (increased serum level of alphafetoprotein) and molecular analysis enabled to diagnose in this family ataxia-oculomotor apraxia, type 2 (AOA2) – the disorder caused by pathology of senataxin protein and mutations of the respective gene SETX on chromosome 9q34.

About the authors

S. A. Klyushnikov

Research Center of Neurology

Author for correspondence.
Email: platonova@neurology.ru
Russian Federation

S. N. Illarioshkin

Research Center of Neurology

Email: platonova@neurology.ru
Russian Federation

E. D. Markova

Research Center of Neurology

Email: platonova@neurology.ru
Russian Federation

N. A. Glotova

Research Center of Neurology

Email: platonova@neurology.ru
Russian Federation

P. A. Fedin

Research Center of Neurology

Email: platonova@neurology.ru
Russian Federation

I. A. Ivanova-Smolenskaya

Research Center of Neurology

Email: platonova@neurology.ru
Russian Federation

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Copyright (c) 2007 Klyushnikov S.A., Illarioshkin S.N., Markova E.D., Glotova N.A., Fedin P.A., Ivanova-Smolenskaya I.A.

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