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Familial case of ataxia with oculomotor apraxia: first observation in Russian population
- Authors: Klyushnikov S.A.1, Illarioshkin S.N.1, Markova E.D.1, Glotova N.A.1, Fedin P.A.1, Ivanova-Smolenskaya I.A.1
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Affiliations:
- Research Center of Neurology
- Issue: Vol 1, No 2 (2007)
- Pages: 29-33
- Section: Clinical analysis
- Submitted: 07.02.2017
- Published: 14.06.2007
- URL: https://annaly-nevrologii.com/journal/pathID/article/view/434
- DOI: https://doi.org/10.17816/psaic434
- ID: 434
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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
Sergey A. Klyushnikov
Research Center of Neurology
Author for correspondence.
Email: sergeklyush@gmail.com
Россия, 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
Россия, 125367, Moscow, Volokolamskoye shosse, 80E. D. Markova
Research Center of Neurology
Email: sergeklyush@gmail.com
Россия, Moscow
N. A. Glotova
Research Center of Neurology
Email: sergeklyush@gmail.com
Россия, Moscow
Pavel A. Fedin
Research Center of Neurology
Email: sergeklyush@gmail.com
Россия, Moscow
I. A. Ivanova-Smolenskaya
Research Center of Neurology
Email: sergeklyush@gmail.com
Россия, Moscow
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СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).