Familial case of ataxia with oculomotor apraxia: first observation in Russian population
- 作者: Klyushnikov S.1, Illarioshkin S.1, Markova E.1, Glotova N.1, Fedin P.1, Ivanova-Smolenskaya I.1
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隶属关系:
- Research Center of Neurology
- 期: 卷 1, 编号 2 (2007)
- 页面: 29-33
- 栏目: Original articles
- URL: https://journals.rcsi.science/2075-5473/article/view/124359
- DOI: https://doi.org/10.17816/psaic434
- ID: 124359
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详细
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.
作者简介
S. Klyushnikov
Research Center of Neurology
编辑信件的主要联系方式.
Email: platonova@neurology.ru
俄罗斯联邦
S. Illarioshkin
Research Center of Neurology
Email: platonova@neurology.ru
俄罗斯联邦
E. Markova
Research Center of Neurology
Email: platonova@neurology.ru
俄罗斯联邦
N. Glotova
Research Center of Neurology
Email: platonova@neurology.ru
俄罗斯联邦
P. Fedin
Research Center of Neurology
Email: platonova@neurology.ru
俄罗斯联邦
I. Ivanova-Smolenskaya
Research Center of Neurology
Email: platonova@neurology.ru
俄罗斯联邦
参考
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