Сerebrotendinous xanthomatosis

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Abstract

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

About the authors

G. E. Rudenskaya

Research Centre of Medical Genetics, Moscow

Author for correspondence.
Email: platonova@neurology.ru
Russian Federation

E. Yu. Zakharova

Research Centre of Medical Genetics, Moscow

Email: platonova@neurology.ru
Russian Federation

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Copyright (c) 2015 Rudenskaya G.E., Zakharova E.Y.

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