Results 21 to 30 of about 265 (124)

A rare metabolic disease: cerebrotendinous xanthomatosis

Van Tıp Dergisi, 2019
Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder. It occurs as a mutation in the CYP27A1 gene with nine exons in the Long arm of chromosome 2.
Tülay Kamaşak, Yeseren Nil Demirhan, Burcu Parıltan Kücükalioglu, Cavit Boz, Alper Han Cebi, İlker Eyüboğlu, Ali Cansu   +6 more
doaj   +1 more source

Case Report: Cerebrotendinous xanthomatosis

Indian Journal of Radiology and Imaging, 2009
Cerebrotendinous xanthomatosis is a rare genetic disorder. We present and discuss the clinical, radiological, and histopathologic findings in a 36-year-old woman who had juvenile cataract, childhood diarrhea, mental retardation, cerebellar ataxia, and ...
Amit A Karandikar, S Pushparajan, Madhavan N Unni, R Srinivas   +3 more
doaj   +3 more sources

Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene

Dermatologica Sinica, 2018
Cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive lipid storage disorder which is caused by mutations in gene CYP27A1 leads to deficiency of enzyme sterol 27-hydroxylase.
Jeng Yuan, Pi-Shan Sung, Julia Yu-Yun Lee, Sheau-Chiou Chao   +3 more
doaj   +1 more source

Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis

Frontiers in Pediatrics, 2020
Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation of toxic metabolites in various organs, particularly in brain and tendons.
Irene Degrassi, Chiara Amoruso, Giuseppe Giordano, Marina Del Puppo, Andrea Mignarri, Maria Teresa Dotti, Mauro Naturale, Gabriella Nebbia   +7 more
doaj   +1 more source

Cerebrotendinous xanthomatosis and infertility: A case report

Clinical Case Reports, 2022
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder that causes neurological, ophthalmic, vascular, and musculoskeletal disorders due to the deposition of cholesterol in the tissues.
Narges Karimi, Zahra Amiri, Sima Naeini, Ali Asghar Okhovat   +3 more
doaj   +1 more source

Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis [PDF]

Brain, 1999
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.
Verrips, A., Lycklama-a-Nijeholt, G.J., Barkhof, F., Engelen, B.G.M. van, Wesseling, P., Luyten, J.A.F.M., Wevers, R.A., Stam, J., Wokke, J.H.J., Heuvel, L.P.W.J. van den, Keyser, A.J.M., Gabreëls, F.J.M.   +11 more
openaire   +3 more sources

High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis.

Journal of Lipid Research, 1991
We measured the cholestanol, cholesterol precursor (lathosterol), and plant sterol (campesterol and sitosterol) concentrations of serum and bile in 11 patients with cerebrotendinous xanthomatosis.
M Kuriyama, J Fujiyama, T Kasama, M Osame   +3 more
doaj   +1 more source

A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene

Journal of Investigative Medicine High Impact Case Reports, 2023
Cerebrotendinous xanthomatosis ( CTX ) is a rare hereditary disease described by a mutation in the CYP27A1 gene , which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid.
Hamed Ghoshouni MD, Roham Sarmadian MD, Rana Irilouzadian MD, Habibe Nejad Biglari MD, Abolfazl Gilani MD   +4 more
doaj   +1 more source

Cerebrotendinous xanthomatosis: Clinical and neuroimaging findings

Archives of Medicine and Health Sciences, 2020
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of effective bile acid biosynthesis (adult lipid storage disorder with the underlying mutation in the CYP27 gene, which encodes sterol 27-hydroxylase, a key enzyme in the ...
S Sheetal, P Byju
doaj   +1 more source

Cerebrotendinous xanthomatosis

Current Opinion in Lipidology, 2013
Cerebrotendinous xanthomatosis (CTX) is a rare neurological disease characterized by accumulation of cholesterol and cholestanol in brain and tendons caused by a mutation in the sterol 27-hydroxylase gene (CYP27A1). The mechanism behind the accumulation of cholestanol in the brain was recently clarified and a role of 27-hydroxycholesterol as a ...
openaire   +5 more sources