Results 21 to 30 of about 5,605 (209)

A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report. [PDF]

J Med Case Rep
Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare inherited metabolic disease caused by the mutation in the CYP27A1 gene. Spinal CTX is a rare clinical subgroup of CTX which lacks typical symptoms seen in classical CTX. Here we report a spinal
Min JH, Kim YS, Son MJ, Joo IS.
europepmc   +2 more sources

Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report. [PDF]

Medicine (Baltimore)
Introduction: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid metabolism disorder. It is caused by a defect in the sterol-27-hydroxylase gene, leading to the deposition of cholesteryl and bile alcohol in large amounts, causing a ...
Zhao W, Han J, Tao D, Zheng H.
europepmc   +2 more sources

The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis. [PDF]

JCEM Case Rep
Tendinous xanthomas are usually a sign of genetic dyslipidemias and are said to be pathognomonic for familial hypercholesterolemia. However, the differential diagnosis must also include rarer forms of genetic dyslipidemias such as cerebrotendinous ...
Guay SP, Paquette M, Poulin V, Levtova A, Baass A, Bernard S.   +5 more
europepmc   +2 more sources

Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity

Epilepsy & Behavior Reports
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive condition resulting in accumulation of cholesterol and cholestanol due to disrupted bile synthesis. Affected tissues include brain, tendons, skin, bone, lungs, and eyes.
Zachary Mills, James Thomas Houston, Ashley Thomas, Kelsey Shoenmeyer   +3 more
doaj   +2 more sources

Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis. [PDF]

J Inherit Metab Dis
ABSTRACT Chenodeoxycholic acid (CDCA) is an essential drug for patients with rare metabolic disease cerebrotendinous xanthomatosis (CTX). To ensure continuation of treatment, the Amsterdam UMC hospital pharmacy developed pharmacy compounded CDCA capsules when the authorized CDCA capsules were no longer available for Dutch patients.
Bouwhuis N, Majait S, Polak Y, de Jong A, Jacobs BAW, Vaz FM, Leen WG, Kemper EM, Swart EL, Hollak CEM.   +9 more
europepmc   +2 more sources

A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome. [PDF]

J Lipid Res
Disease-specific sterols accumulate in the blood of patients with several rare lipid disorders. Biochemical measurement of these sterols is important for correct diagnosis and sometimes monitoring of treatment.
Westbye AB, Dizdarevic LL, Dahl SR, Asprusten EA, Bliksrud YT, Sandblom AL, Diczfalusy U, Thorsby PM, Retterstøl K.   +8 more
europepmc   +2 more sources

Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study. [PDF]

Mol Syndromol
Background: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive congenital metabolic disorder, which is characterized by the impairment of the enzymatic activity of sterol 27-hydroxylase.
Karadag M, Turan MI, Celebi C, Caglar T.
europepmc   +2 more sources

Cerebrotendinous xanthomatosis [PDF]

Neurology, 2006
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage disease caused by a mutation in the sterol 27-hydroxylase (CYP27) gene1,2. It is important that orthopaedic surgeons be aware of this condition because the initial presentation may be symmetric, painful enlargement and deformity of the Achilles tendons.
Ludger, Schöls, Thomas, Nägele, Rebecca, Schüle, Daniela, Berg   +3 more
  +5 more sources

Information Theory Analysis of CTX Shows Consistent Clinical Presentation. [PDF]

J Inherit Metab Dis
ABSTRACT Cerebrotendinous xanthomatosis (CTX) is a rare, metabolic disorder caused by pathogenic variants in CYP27A1. The classic clinical presentation includes infantile‐onset chronic diarrhea, juvenile‐onset bilateral cataracts, with development of tendon xanthomas and progressive neurological dysfunction.
Hanson J, Bonnen PE.
europepmc   +2 more sources

Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings

European Medical Journal Neurology, 2023
Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder that occurs due to defective bile acid biosynthesis, causing unusual cholesterol and cholestanol deposition in multiple soft tissues.
Shubham Saini, Neha Bagri
doaj   +1 more source