Annals of Clinical and Experimental NeurologyAnnals of Clinical and Experimental NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-2533Eco-Vector12310.17816/psaic123ReviewsОбзорыUnknownСerebrotendinous xanthomatosisЦеребросухожильный ксантоматозRudenskayaGalina E.РуденскаяГалина Евгеньевна
Russian Federation
rudenskaya@med-gen.ruZakharovaEkaterina Yu.ЗахароваЕкатерина Юрьевна
Russian Federation
rudenskaya@med-gen.ruResearch Centre for Medical Genetics, MoscowФГБНУ «Медико-генетический научный центр им. Н.П. Бочкова»Research Centre for Medical GeneticsФГБНУ «Медико-генетический научный центр им. Н.П. Бочкова»0909201593667201022017Copyright ©; 2015, Rudenskaya G.E., Zakharova E.Y.Copyright ©; 2015, Rudenskaya G.E., Zakharova E.Y.2015Rudenskaya G.E., Zakharova E.Y.Rudenskaya G.E., Zakharova E.Y.https://creativecommons.org/licenses/by/4.0https://annaly-nevrologii.com/pathID/article/view/123

Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder of cholesterol and bile acid metabolism associated with the sterol 27-hydroxylase gene CYP27A1. The disease is characterized by a varying age of the onset, progressive course, and wide range of the neurological and extraneural symptoms. MRI of the brain plays an important diagnostic role. Measurement of the serum cholestanol level and DNA analysis are verification methods. Timely started chenodeoxycholic acid replacement therapy enables slowing down the disease progression and, in some cases, preventing neurological disability.

References

Церебросухожильный ксантоматоз – редкое аутосомно-рецессивное нарушение обмена холестерина и желчных кислот, связанное с геном стерол 27-гидроксилазы CYP27A1. Болезнь характеризуется варьирующим возрастом начала, прогрессирующим течением, широким спектром неврологических и экстраневральных симптомов. Важная диагностическая роль принадлежит МРТ мозга. Методы верификации – определение холестанола в сыворотке и анализ ДНК. Своевременно начатое заместительное лечение хенодезоксихолевой кислотой позволяет замедлить прогрессирование, в части случаев – предотвратить неврологическую инвалидизацию.

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