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
-
Affiliations:
- Research Center of Neurology
- Issue: Vol 1, No 2 (2007)
- Pages: 29-33
- Section: Original articles
- URL: https://journal-vniispk.ru/2075-5473/article/view/124359
- DOI: https://doi.org/10.17816/psaic434
- ID: 124359
Cite item
Full Text
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
References
- Иллариошкин С.Н., Иванова-Смоленская И.А. Дегенеративные заболевания с преимущественным поражением пирамидной системы и мозжечка. В кн.: Яхно Н.Н., Штульман Д.Р. (ред.). Болезни нервной системы. Руководство для врачей (в 2Aх т.). М.: Медицина, 2003; т. 2: 173–188.
- Иллариошкин С.Н., Руденская Г.Е., Иванова-Смоленская И.А. и др. Наследственные атаксии и параплегии. М.: МЕДпресс-информ, 2006.
- Aicardi J., Barbosa C., Andermann E. et al. Ataxia-ocular motor apraxia: a syndrome mimicking ataxia telangiectasia. Ann. Neurol. 1988; 24: 497–502.
- Barbot C., Coutinho P., Chorao R. et al. Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. Arch. Neurol. 2001; 58: 201–205.
- Bomont P., Watanabe M., GershoniтBarush R. et al. Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33A34, and with hearing impairment and optic atrophy to 6p21–23. Eur. J. Hum. Genet. 2000; 8: 986–990.
- Botez M.I., BotezтMarquard T., Elie R. et al. Amantadine hydrochloride treatment in olivopontocerebellar atrophy: a long term followAup study. Eur. Neurol. 1999; 41: 212–215.
- Date H., Onodera O., Tanaka H. et al. EarlyAonset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat. Genet. 2001; 29: 184–188.
- Harding A.E. Hereditary ataxias and related disorders. Edinburgh: Churchill Livingstone, 1984.
- Koeppen A.H. Ocular apraxia in recessive ataxia. Arch. Neurol. 2002; 59: 874.
- Moreira M.C., Barbot C., Tachi N. et al. The gene mutated in ataxia-oculomotor apraxia 1 encodes the new HIT/ZnAfinger protein aprataxin. Nat. Genet. 2001; 29: 189–193.
- Moreira M.C., Klur S., Watanabe M. et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxiaAocular apraxia 2. Nat. Genet. 2004; 36: 225–227.
- Nemeth A.E., Bochukova E., Dunna E. et al. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxiaAtelangiectasiaAlike syndrome) is linked to chromosome 9q34. Am. J. Hum. Genet. 2000; 67: 1320–1326.
- Polo J., Calleja J., Combarros O. et al. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. Brain 1991; 114: 855–866.
- Shimazaki H., Takiyama Y., Sakoe K. et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. Neurology 2002; 59: 590–595.
Supplementary files
