Results 11 to 20 of about 3,665 (213)

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

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   +2 more sources

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

Cerebrotendinous xanthomatosis: a literature review and case study [PDF]

Frontiers in Cardiovascular Medicine
Cerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment for CTX.
Anthony Matta, Anthony Matta, Fabienne Ory Magne, Thierry Levade, Fabrice Bonneville, Jean Ferrières   +5 more
doaj   +2 more sources

Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation

Epilepsy & Behavior Reports, 2021
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal-recessive inborn disorder of bile acid metabolism due to mutations in the CYP27A1 gene. It presents with a diverse range of neurological and non-neurological symptoms. We present a case of CTX with
Karan M. Desai, Piyush Kumar, Parthvi S. Ravat, Sangeeta H. Ravat, Neeraj Jain, Shruti Agrawal, Rahil Ansari   +6 more
doaj   +2 more sources

A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis [PDF]

, 2010
Article abstract Mutations of the gene encoding the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1 gene) cause defects in the cholesterol pathway to bile acids that lead to the storage of cholestanol and cholesterol in tendons, lenses and the ...
Hauke Schneider, Alexandra Lingesleben, Hans-Peter Vogel, Rita Garuti, S. Calandra   +4 more
openalex   +7 more sources

An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis [PDF]

Reports
Background and Clinical Significance: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to impaired bile acid synthesis and systemic cholesterol deposition. The condition presents
Mariya Levkova, Mari Hachmeriyan, Margarita Grudkova, Mihael Tsalta-Mladenov, Ara Kaprelyan   +4 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

Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia. [PDF]

Front Neurol, 2023
Background: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by a mutation in the CYP27A1 gene. Due to the disruption of bile acid synthesis leading to cholesterol and cholestanol accumulation, CTX manifests
Chun MY, Heo NJ, Seo SW, Jang H, Suh YL, Jang JH, Kim YE, Kim EJ, Moon SY, Jung NY, Lee SM, Kim HJ.   +11 more
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

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