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

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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

Sergey A. Klyushnikov

Research Center of Neurology

Author for correspondence.
Email: sergeklyush@gmail.com
Russian Federation, Moscow

Sergey N. Illarioshkin

Research Center of Neurology

Email: sergeklyush@gmail.com
ORCID iD: 0000-0002-2704-6282

D. Sci. (Med.), Prof., RAS Full Member, Deputy Director for Science; Director, Brain Institute

Russian Federation, 125367, Moscow, Volokolamskoye shosse, 80

E. D. Markova

Research Center of Neurology

Email: sergeklyush@gmail.com
Russian Federation, Moscow

N. A. Glotova

Research Center of Neurology

Email: sergeklyush@gmail.com
Russian Federation, Moscow

Pavel A. Fedin

Research Center of Neurology

Email: sergeklyush@gmail.com
Russian Federation, Moscow

I. A. Ivanova-Smolenskaya

Research Center of Neurology

Email: sergeklyush@gmail.com
Russian Federation, Moscow


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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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