Results 11 to 20 of about 5,605 (209)

2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis [PDF]

BMC Neurology, 2011
Background Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX).
Tian Di, Zhang Zai-qiang
doaj   +4 more sources

Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report [PDF]

Journal of Medical Case Reports
Background Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder involving bile acid biosynthesis. Reduced mitochondrial cytochrome P450 enzyme activity leads to abnormal lipid accumulation in various tissues, especially ...
Yushi Oyama, Keishiro Okawa, Takuya Miyagi, Takahiro Sakai, Kyuhachi Otagiri, Hiroshi Kitabayashi   +5 more
doaj   +2 more sources

Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis. [PDF]

Front Neurol
Objective This study aims to analyze the clinical and genetic characteristics of cerebrotendinous xanthomatosis (CTX) in a Chinese family. Methods Clinical data, including medical history, neurologic and auxiliary examinations, imaging studies, and ...
Guoliang Y, Zhaoxia W, Lin Z, Xuan C, Xiaodong Z, Xiaolian X, Yangli S, Tianli Z, Yanping Z, Jiangping W, Qing L.   +10 more
europepmc   +2 more sources

Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia. [PDF]

Mol Genet Metab Rep
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic genetic disease resulting from defects in the bile acid metabolism. This report describes cases diagnosed with CTX at an exceptionally early age – 4 months (Patient #2 and #
Alsaleem BM, Ahmed AB, Alruwaithi MM, Alamery TY, Alrajhi NN.   +4 more
europepmc   +2 more sources

Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report [PDF]

Archives of Endocrinology and Metabolism
Sitosterolemia is a rare genetic lipid disorder caused by mutations in the ABCG5/ABCG8, genes. It is characterized by plasmatic plant sterols accumulation, formation of tendon and tuberous xanthomas and early onset coronary artery disease.
Felipe Augusto Azevedo Leão, Leticia Ferreira Gontijo Silveira, Rodrigo Rezende Arantes, Milena Maria Moreira Guimarães   +3 more
doaj   +2 more sources

Cholic acid as a treatment for cerebrotendinous xanthomatosis: a comprehensive review of safety and efficacy. [PDF]

Orphanet J Rare Dis
Cerebrotendinous xanthomatosis (CTX) is a rare treatable bile acid disorder caused by homozygous or compound heterozygous variants in CYP27A, a gene that encodes the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1). CYP27A1 facilitates the production
Pasternack G, Courtney J, Kalsi G.
europepmc   +2 more sources

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis

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

Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention. [PDF]

Brain Sci
Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder caused by mutations in the CYP27A1 gene, leading to cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is an underrecognized feature with considerable
Camelo-Filho AE, Lima PLGSB, Cavalcante FLHB, Miyajima OR, Santos CF, da Rosa RF, Pessoa ALS, Braga-Neto P, Nóbrega PR.   +8 more
europepmc   +2 more sources

Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Background: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by bi-allelic pathogenic variants in CYP27A1 gene that results in the deposition of cholestanol in the eyes, tendons, soft tissues and nervous system leading ...
Katragadda P, Holla VV, Kamble N, Saini J, Yadav R, Pal PK.   +5 more
europepmc   +2 more sources

Frontier and hotspot evolution in cerebrotendinous xanthomatosis: a bibliometric analysis from 1993 to 2023. [PDF]

Front Neurol
Background Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease associated with lipid metabolic disorders. Because of its clinical diversity and rarity, the diagnosis is often unclear.
Luo F, Ding Y, Zhang S, Diao J, Yuan B.
europepmc   +2 more sources