Pathophysiology of cerebrotendinous xanthomatosis
نویسندگان
چکیده
منابع مشابه
Cerebrotendinous xanthomatosis
Cerebrotendinous Xanthomatosis (CTX; OMIM #213700) is a rare lipid storage metabolic disease with autosomal recessive inheritance. It is characterized by deficiency of mitochondrial sterol 27-hydroxylase (CYP27) which is a key enzyme in bile acid biosynthesis. The enzyme converts cholesterol into bile acids hence deficiency results in abnormal deposition of cholesterol and cholestenol in multip...
متن کاملCerebrotendinous xanthomatosis.
Cerebrotendinous xanthomatosis is a rare genetic metabolic disorder of cholesterol and bile acid metabolism that results in systemic and neurologic abnormalities. Typically, the disease begins in infancy with chronic diarrhoea. Cataracts become evident in childhood or adolescence, and xanthomata develop in the second and third decades of life. Significant neurologic impairment also occurs; this...
متن کاملCerebrotendinous xanthomatosis
Cerebrotendinous Xanthomatosis (CTX; OMIM #213700) is a rare lipid storage metabolic disease with autosomal recessive inheritance. It is characterized by deficiency of mitochondrial sterol 27-hydroxylase (CYP27) which is a key enzyme in bile acid biosynthesis. The enzyme converts cholesterol into bile acids hence deficiency results in abnormal deposition of cholesterol and cholestenol in multip...
متن کاملSpinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.
We describe seven Dutch patients from six families with a slowly progressive, mainly spinal cord syndrome that remained for many years the sole expression of cerebrotendinous xanthomatosis (CTX). MRI demonstrated white matter abnormalities in the lateral and dorsal columns of the spinal cord. Post-mortem examination of one of the patients showed extensive myelin loss in these columns. An array ...
متن کاملTeaching neuroimage: cerebrotendinous xanthomatosis.
Brijesh P. Mehta, MD Robert H. Shmerling, MD A 57-year-old man with cerebrotendinous xanthomatosis (CTX) was admitted to the hospital after a fall. He had been diagnosed with CTX in his 30s and had had numerous complex-partial seizures, which occur in 50% of adult patients.1 Seizures were characterized by staring spells and speech deficits, occasionally generalizing to tonic-clonic leg movement...
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ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2016
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.cn-000962