Results 21 to 30 of about 2,313 (193)

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

JIMD Reports, 2021
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase.
Adam J. Guenzel, Andrea DeBarber, Kimiyo Raymond, Radhika Dhamija   +3 more
doaj   +2 more sources

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease characterized by disruption of bile acid synthesis due to inactivation of the CYP27A1 gene. Treatment is available in the form of bile acid replacement.
Tiziano Pramparo, Robert D. Steiner, Steve Rodems, Celia Jenkinson   +3 more
doaj   +2 more sources

Cerebrotendinous Xanthomatosis [PDF]

Neurology, 2000
Patni N, Wilson DP.
europepmc   +3 more sources

A Case of Familial Hypercholesterolemia and Cerebrotendinous Xanthomatosis With Multiple Giant Xanthomas

Annals of Internal Medicine: Clinical Cases
A 56-year-old woman was referred to our hospital for evaluation of multiple infectious giant xanthomas on her upper and lower limbs. She was initially diagnosed with heterozygous familial hypercholesterolemia with a proprotein convertase subtilisin/kexin
Tatsuya Maruhashi, Shogo Matsui, Shinji Kishimoto, Masato Kajikawa, Yukihito Higashi   +4 more
doaj   +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

FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy. [PDF]

Health Sci Rep
ABSTRACT Background and Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to deficient sterol 27‐hydroxylase activity. This enzyme is critical for bile acid synthesis, and its dysfunction results in reduced chenodeoxycholic acid (CDCA) levels and subsequent accumulation of ...
Jalal L, Basaria AAA, Yokolo H.
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

Achilles swelling and ataxia in an adolescent: A case report of cerebrotendinous xanthomatosis

Radiology Case Reports, 2022
Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by a bile acid metabolic problem that causes cholesterol metabolites to accumulate in various organs. There are 2 types of CTX: traditional and spinal.
Hind Sahli, MD, Jihane El. Mandour, MD, Jihad Boularab, MD, Issam En-nafaa, PhD,MD, Jamal El. Fenni, PhD,MD, Aziz Hommadi, PhD,MD   +5 more
doaj   +1 more source

Cerebrotendinous Xanthomatosis: A Reversible Rarity if Caught on Time [PDF]

Indian Dermatology Online Journal
Parag Suresh, Prabin P. Dev, Niti Khunger, Shruti Sharma   +3 more
doaj   +2 more sources

Cerebrotendinous xanthomatosis [PDF]

, 2020
Gerald Salen, Shailendra B. Patel
  +5 more sources