Results 71 to 80 of about 7,684 (214)

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, 2020
Highlights • Epilepsy is rarely a presenting neurological feature of CTX, but a progressive myoclonic epilepsy.• A 'progressive myoclonic epilepsy'-like presentation of Cerebrotendinous Xanthomatosis (CTX) is novel to the best of our knowledge.
Karan M. Desai, Piyush Kumar, Parthvi Ravat, S. Ravat, N. Jain, S. Agrawal, Rahil Ansari   +6 more
semanticscholar   +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

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

Movement Disorders, Volume 41, Issue 2, Page 342-350, February 2026.
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras, Alberto Albanese, Mark Hallett, Christine Klein, Katja Lohmann, the Genetic Nomenclature in Movement Disorders Study Group Steering Committee, Christos Ganos, Sarah Camargos, Anthony E. Lang, Darius Ebrahimi‐Fakhari, Claudia Del Gamba, Bart van de Warrenburg, Lakshya Basumatary, Lara Lange, Diana Olszewska, Zhidong Cen, Kishore Kumar, Mohamed Zahir, Carolyn Sue, H.A. Jinnah   +19 more
wiley   +1 more source

A preventable ataxia: Cerebrotendinous xanthomatosis

Annals of Indian Academy of Neurology, 2019
Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development ...
Bhagya Shaji, B Srikumar, Dileep Ramachandran   +2 more
doaj   +1 more source

Complex Dermatological Manifestations of Poorly Controlled Diabetes: A Case of Acquired Ichthyosis

Case Reports in Dermatological Medicine, Volume 2026, Issue 1, 2026.
Acquired ichthyosis (AI) is a rare dermatological disorder characterized by dry, scaly skin. This case involves a 67‐year‐old Hispanic male with poorly controlled diabetes mellitus (DM) who presented with generalized dryness and itchiness after diabetic ketoacidosis.
Sam Fathizadeh, Alexander D. Woods, Saul Turcios Escobar, Maria Tsoukas, Semonti Nandi   +4 more
wiley   +1 more source

Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts.

JAMA ophthalmology, 2019
Importance Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive bile acid synthesis disorder caused by mutations in CYP27A1, the gene encoding sterol 27-hydroxylase, which results in elevated levels of plasma cholestanol and urinary bile ...
S. Freedman, C. Brennand, J. Chiang, Andrea E DeBarber, M. D. Del Monte, P. B. Duell, John Fiorito, Randall D Marshall   +7 more
semanticscholar   +1 more source

The Influence of Schwann Cell Metabolism and Dysfunction on Axon Maintenance

Glia, Volume 73, Issue 12, Page 2338-2352, December 2025.
Main Points Sensory neurons depend on Schwann cells for survival. Schwann cells provide energy for axons dunng rapid firing or after injury. Dysregulated metabolism in Schwann cells can lead to the production of neurotoxic and axon degeneration. ABSTRACT Schwann cells are the glial cells in the peripheral nervous system responsible for the production ...
Rose Follis, Vishwanath V. Prabhu, Bruce D. Carter   +2 more
wiley   +1 more source

Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023
Introduction Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease that occurs as result of mutation in the CYP27A1 gene. The clinical presentation of the disease is quite wide.
Sinan Eliaçık, Gülsüm Çil
doaj   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Enzymes

British Journal of Pharmacology, Volume 182, Issue S1, Page S307-S403, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Doriano Fabbro, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Stephanie Annett, Detlev Boison, Kathryn Elisa Burns, Carmen Dessauer, Jürg Gertsch, Nuala Ann Helsby, Angelo A. Izzo, Rennolds Ostrom, Ester Pagano, Andreas Papapetropoulos, Nigel J. Pyne, Susan Pyne, Tracy Robson, Roland Seifert, Johannes‐Peter Stasch, Csaba Szabo, Mario van der Stelt, Albert van der Vliet, Val Watts, Szu Shen Wong   +31 more
wiley   +1 more source

Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis.

Journal of Lipid Research, 1985
We have measured plasma sterol composition in 14 subjects with sitosterolemia and xanthomatosis. In addition to elevated plasma phytosterol (campesterol 16 +/- 7 mg/dl and sitosterol 35 +/- 16 mg/dl) and normal to moderately high cholesterol levels (258 +
G Salen, P O Kwiterovich, Jr, S Shefer, G S Tint, I Horak, V Shore, B Dayal, E Horak   +7 more
doaj   +1 more source