Results 21 to 30 of about 1,415 (157)

A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor

Tremor and Other Hyperkinetic Movements, 2018
Background: Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms.
Malco Rossi, Martin Cesarini, Emilia M. Gatto, Angel Cammarota, Marcelo Merello   +4 more
doaj   +1 more source

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

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   +1 more source

Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population

Molecular Genetics and Metabolism Reports, 2015
Cerebrotendinous xanthomatosis is a lipid storage disease characterized by diarrhea, cataract, tendon xanthoma and neurological regression if untreated. CYP27A1 is the only gene in which mutations are known to cause Cerebrotendinous xanthomatosis.
Atanu Kumar Dutta, Sumita Danda, Karthik Muthusamy, Mathew Alexander, Sniya Valsa Sudhakar, Samuel Hansdak, Rini Bandyopadhyay, G.B. Bakhya Shree, L. Rekha   +8 more
doaj   +1 more source

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

Cerebrotendinous Xanthomatosis [PDF]

Neurology, 2000
Patni N, Wilson DP.
europepmc   +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