Annals of Clinical and Experimental NeurologyAnnals of Clinical and Experimental Neurology2075-54732409-2533Research Center of Neurology43410.17816/psaic434UnknownFamilial case of ataxia with oculomotor apraxia: first observation in Russian populationKlyushnikovSergey A.sergeklyush@gmail.comIllarioshkinSergey N.<p>D. Sci. (Med.), Prof., RAS Full Member, Deputy Director for Science; Director, Brain Institute</p>sergeklyush@gmail.comhttps://orcid.org/0000-0002-2704-6282MarkovaE. D.sergeklyush@gmail.comGlotovaN. A.sergeklyush@gmail.comFedinPavel A.sergeklyush@gmail.comIvanova-SmolenskayaI. A.sergeklyush@gmail.comResearch Center of Neurology1406200712293307022017Copyright © 2007, Klyushnikov S.A., Illarioshkin S.N., Markova E.D., Glotova N.A., Fedin P.A., Ivanova-Smolenskaya I.A.2007<p>Hereditary ataxias represent a clinically and genetically heterogeneousgroup of disorders, modern classification of which isbased on identification of a primary genetic and/or biochemicaldefect in examined patients and their family members. Recently,autosomal recessive ataxia with oculomotor apraxia wasdescribed; it is characterized by combination of coordinationproblems with specific abnormalities of voluntary eye movementsand, probably, by high prevalence if a majority of populations.We presented the first description of this phenotype inRussia observed in two sibs (sisters). Biochemical screening(increased serum level of alphafetoprotein) and molecularanalysis enabled to diagnose in this family ataxia-oculomotorapraxia, type 2 (AOA2) the disorder caused by pathology ofsenataxin protein and mutations of the respective gene SETX onchromosome 9q34.</p>ataxia with oculomotor apraxiamolecular diagnosissenataxinатаксия с окуломоторной апраксиеймолекулярная диагностикасенатаксин[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.]