References

medgen

Медицинская генетика

Medical Genetics

2073-7998

Publishing House «Genius Media» LLC

10.1234/XXXX-XXXX-2015-12-39-46

medgen-78

Research Article

ОПИСАНИЕ КЛИНИЧЕСКОГО СЛУЧАЯ

Ганглиозидоз GM2 у взрослых: первое российское наблюдение и обзор литературы

GM2 gangliosidosis in adults: first Russian case report and literature review

Руденская

Г. Е.

Rudenskaya

G. E.

rudenskayay@med-gen.ru

Букина

А. М.

Bukina

A. M.

noemail@neicon.ru

Букина

Т. М.

Bukina

T. M.

noemail@neicon.ru

Иллариошкин

С. Н.

Illarioshkin

S. N.

noemail@neicon.ru

Клюшников

С. А.

Kluyshnikov

S. A.

noemail@neicon.ru

Воскобоева

Е. Ю.

Voskoboeva

E. Yu.

noemail@neicon.ru

Захарова

Е. Ю.

Zakharova

E. Yu.

noemail@neicon.ru

Федеральное государственное бюджетное научное учреждение «Медико-генетический научный центр»РоссияFSBI «Research Centre for Medical Genetics»Russian Federation

Федеральное государственное бюджетное научное учреждение «Научный центр неврологии»РоссияFSBI «Research Centre for Neurology»Russian Federation

2015

16062016

14123946

2016

Руденская Г.Е., Букина А.М., Букина Т.М., Иллариошкин С.Н., Клюшников С.А., Воскобоева Е.Ю., Захарова Е.Ю.

Rudenskaya G.E., Bukina A.M., Bukina T.M., Illarioshkin S.N., Kluyshnikov S.A., Voskoboeva E.Y., Zakharova E.Y.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.medgen-journal.ru/jour/article/view/78

Два клинически сходных генетических варианта ганглиозидоза GM2 (Г-GM2) - болезнь Тея-Сакса (БТС), распространенная у евреев-ашкенази, и болезнь Зандхофа, связанные с генами HEXA и HEXB соответственно, - наряду с частым младенческим фенотипом имеют редкие поздние формы: подострую и хроническую, различающиеся кроме возраста начала течением и симптомами. Описан хронический Г-GM2 (БТС) у 27-летней больной из этнически смешанной семьи (мать - русская, отец - татарин): первое верифицированное российское наблюдение хронического Г-GM2 и один из немногих случаев хронической БТС у не-ашкенази в мировой литературе. Диагноз, предположенный заочно через 14 лет после начала болезни по типичному сочетанию синдрома спинальной амиотрофии и спиноцеребеллярной атаксии, подтвержден биохимическими методами (снижение уровня гексозаминидазы А с остаточной активностью 4%) и анализом ДНК: найдена мутация HEXA c.805G>A (p.Gly269Ser) отцовского происхождения. Мутация типична для хронической БТС у ашкенази и найдена в нескольких нееврейских семьях, но в тюркских популяциях ранее не описана. Представлен обзор литературы о Г-GM2 у взрослых.

Two genetic variants of GM2 gangliosidosis, Tay-Sachs disease (TS) common in Ashkenazi Jews (gene HEXA ) and Sandhoff disease (gene HEXB ), have rare late-onset forms: subacute or juvenile and chronic or adult. A case of chronic TS in a 27-year-old female of mixed ethnicity (Russian mother and Tatar father) with typical combination of spinal amyotrophy and spinocerebellar ataxia is presented. The diagnosis was suspected by correspondence 14 years after disease onset and confirmed by decreased hexosaminidase A level with residual activity 4% and detection of HEXA mutation c.805G>A (p.Gly269Ser) of paternal origin. The mutation is common in chronic TS in Ashkenazi and was also found in few non-Ashkenazi patients, but not in Turkic populations as in our case. This is a first chronic GM2 case in Russia and one of few late-onset TS non-Ashkenazi cases with common Ashkenazi mutation in world literature.

ганглиозидоз GM2поздняя болезнь ТеяСаксаген HEXAчастая мутация ашкеназипоражение мотонейроноватаксияgangliosidosis GM2late-onset TaySachs disease (LOTS)gene HEXAcommon Ashkenazi mutationneuronopathyataxia

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The authors declare that there are no conflicts of interest present.