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.

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About the authors

Galina E. Rudenskaya

Research Centre for Medical Genetics, Moscow

Email: rudenskaya@med-gen.ru
Russian Federation, Moscow

Ekaterina Yu. Zakharova

Research Centre for Medical Genetics

Author for correspondence.
Email: rudenskaya@med-gen.ru
Russian Federation, Moscow

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