Results 11 to 20 of about 2,521 (182)

Cerebrotendinous xanthomatosis and infertility: A case report [PDF]

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   +3 more sources

Case report: Cerebrotendinous xanthomatosis treatment follow-up [PDF]

Frontiers in Neurology
Xanthomatosis is a genetic disease inherited in an autosomal recessive manner. The specific phenotypic features are associated with patient’s genetic profile.
Karolina Ejsmont-Sowała, Tomasz Książek, Katarzyna Maciorowska-Rosłan, Joanna Rosłan, Agata Czarnowska, Anna Jakubiuk-Tomaszuk, Anna Jakubiuk-Tomaszuk, Joanna Tarasiuk, Katarzyna Kapica-Topczewska, Alina Kułakowska   +9 more
doaj   +4 more sources

Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis [PDF]

Neurology International
Background: Cerebrotendinous Xanthomatosis (CTX) is a rare, inherited metabolic disease caused by pathogenic variants in CYP27A1. The clinical presentation of this progressive disease includes cognitive deficits, ataxia, peripheral neuropathy, and ...
Jennifer Hanson, Penelope E. Bonnen
doaj   +3 more sources

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   +5 more sources

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   +2 more sources

Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis [PDF]

Brain, 1999
We describe seven Dutch patients from six families with a slowly progressive, mainly spinal cord syndrome that remained for many years the sole expression of cerebrotendinous xanthomatosis (CTX). MRI demonstrated white matter abnormalities in the lateral and dorsal columns of the spinal cord.
Verrips, A., Lycklama-a-Nijeholt, G.J., Barkhof, F., Engelen, B.G.M. van, Wesseling, P., Luyten, J.A.F.M., Wevers, R.A., Stam, J., Wokke, J.H.J., Heuvel, L.P.W.J. van den, Keyser, A.J.M., Gabreëls, F.J.M.   +11 more
openaire   +4 more sources

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis [PDF]

Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +2 more sources

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

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
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.
Natalja Bouwhuis, Soumia Majait, Yasmin Polak, Aylene de Jong, Bart A. W. Jacobs, Frédéric M. Vaz, Willemijn G. Leen, E. Marleen Kemper, Eleonora L. Swart, Carla E. M. Hollak   +9 more
wiley   +2 more sources

Cerebrotendinous xanthomatosis - A case report

Indian Journal of Radiology and Imaging, 2019
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular, vascular, and musculoskeletal symptoms from deposition of cholestanol and ...
Arshed Hussain Parry, Abdul Haseeb Wani, Muiez Bashir, Tariq A Gojwari   +3 more
doaj   +2 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   +2 more sources