Results 61 to 70 of about 4,294 (176)

Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.

Journal of Lipid Research, 1982
Serum 26-hydroxycholesterol was quantitated by isotope dilution-mass spectrometry in normal individuals and in patients with cerebrotendinous xanthomatosis. In the normal individuals, the concentration of 26-hydroxycholesterol in serum ranged from 4.3 to
N B Javitt, E Kok, B Cohen, S Burstein
doaj   +1 more source

Medicine Development and Access for Rare Diseases: Can We Do Better?

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Recent advances in molecular biology and genomics have significantly enhanced our understanding of rare diseases. While enabling the development of highly targeted therapies, it also leads to complexity in the development, regulation, and accessibility of orphan medicines.
Carla E. M. Hollak, Noa Rosenberg, Colinda Post, Nina Stolwijk, Evert Manders, Daphne Schoenmakers, Bart Penninx, Niels Reijnhout, Kathelijn Verdeyen, Roel Jonker, Annet M. Bosch, Mirjam Langeveld, Vincent van der Wel, Saco de Visser, Sibren van den Berg   +14 more
wiley   +1 more source

FDA approves ctexli for cerebrotendinous xanthomatosis: a long-awaited breakthrough

Journal of Rare Diseases
In February 2025, the Food and Drug Administration (FDA) approved Ctexli (chenodiol) for cerebrotendinous xanthomatosis (CTX), a rare inborn bile acid metabolism disorder, with limited treatment options.
Adan Tariq, Rizwana Noor, A. Tariq
semanticscholar   +1 more source

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

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   +1 more source

Absolute configuration at carbon 23 of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,23,25-pentol excreted by patients with cerebrotendinous xanthomatosis.

Journal of Lipid Research, 1984
Absolute configuration at C-23 of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,23,25-pentol, one of the bile alcohols isolated from the patients with cerebrotendinous xanthomatosis, was unequivocally determined as 23S by conversion of a key intermediate ...
K Kihira, A Kubota, T Hoshita
doaj   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Role of cytology in early diagnosis of cerebrotendinous xanthomas

Journal of Cytology, 2017
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestenol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive ...
Shreosee Roy, Arghya Bandyopadhyay, Kaushik Bose, Soumi Bhattacharyya   +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

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

A rare treatable cause for atypical frontotemporal dementia with multiple fractures in a young female

Journal of Geriatric Mental Health, 2018
Frontal and temporal lobe involvement in young people is seen in infections like neurosyphilis, Vitamin B12 deficiency, NPH, tumors and neurometabolic disorders apart from neurodegenerative dementias. Involvement of other parts of neuraxis in addition to
Sadanandavalli Retnaswami Chandra, Neeraja Koti, Ganaraja Valakunja Harikrishna, Pooja Mailankody, C Nitin Ramanujam, S Mathuranath Pavagada, Thomas Gregor Issac   +6 more
doaj   +1 more source