Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
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چکیده
منابع مشابه
Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene. Hallmark clinical manifestations of CTX include bilateral cataracts, chronic diarrhea, tendon xanthomas, and neurologic dysfunction. CTX is a rare disorder, which is supposed to be under-diag...
متن کاملCerebrotendinous xanthomatosis patients with and without parkinsonism: clinical characteristics and neuroimaging findings.
Parkinsonism in cerebrotendinous xanthomatosis (CTX) is rare. There are no published studies with imaging findings of dopamine transporter using (99m)Tc-[2-[[2-[[[3-(4-chlorophenyl)-8-methyl-8-azabicyclo [3,2,1] oct-2-yl] methyl] (2-mercaptoethyl) amino] ethyl] amino]-ethanethiolato(3-)-N2,N2,S2,S2]oxo-[1R-(exo-exo)] ((99m)Tc-TRODAT-1) SPECT in CTX patients. This report is on the clinical detai...
متن کاملCerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.
BACKGROUND AND PURPOSE Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene resulting in sterol-27-hydroxylase deficiency. Current information about CTX is based mainly on case reports, with only few large series reported. Although perceived as a potentially treatable condition, efficacy of chenodeoxycholic acid plus statin therapy ...
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 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...
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ژورنال
عنوان ژورنال: Brain
سال: 2000
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/123.5.908