Results 51 to 60 of about 2,521 (182)

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

Bilateral Achilles Tendon Xanthomas in a Patient with Cerebrotendinous Xanthomatosis

, 2017
Cerebrotendinous xanthomatosis is a rare, autosomal recessive, lipid storage disease with accumulation of cholestanol in most tissues, particularly in the Achilles tendons.
Mustafa Karakaplan, Karakaplan, Mustafa, Gormeli, Gokay, Mehmet Fatih Korkmaz, Emre Ergen, Nurzat Elmalı, Gökay Görmeli, Ergen, Emre, Korkmaz, Mehmet Fatih, Elmali, Nurzat   +9 more
core   +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

Cerebrotendinous xanthomatosis: report of two Brazilian brothers. [PDF]

, 2004
Contains fulltext : 58819.pdf (Publisher’s version ) (Open Access)Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lipid storage secondary to a sterol 27-hydroxylase deficiency in the ...
Pereira, Eduardo R., Zavala, Jorge A., Flumignan Zétola, Viviane, Ana Paula Trentin, Werneck, L.C., Pereira, E.R., Sistermans, Erik A., Salmo Raskin, Trentin, Ana Paula, Zavala, J.A., Raskin, Salmo, Jorge A. Zavala, Scola, R.H., Eduardo R. Pereira, Lange, M.C., Raskin, S., Scola, Rosana H., Lineu C. Werneck, Viviane Flumignan Zétola, Teive, Helio A.G., Marcos Christiano Lange, Rosana H. Scola, Erik A. Sistermans, Zetola, V.F., Werneck, Lineu C., Lange, Marcos Christiano, Trentin, A.P., Sistermans, E.A., Helio A.G. Teive, Teive, H.   +29 more
core   +2 more sources

Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis

, 2017
Item does not contain fulltextBACKGROUND: This report highlights the differential diagnosis of predominant cerebellar white matter abnormalities with dentate nuclei involvement.
Marjo S. van der Knaap, Aad Verrips, Knaap, M.S. van der, Stelten, B.M.L., Stelten, Bianca M.L., Verrips, Aad, Bianca M.L. Stelten, Wevers, Ron A., Ron A. Wevers, van der Knaap, Marjo S., Verrips, A., Wevers, R.A.   +11 more
core   +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 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

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, 2021
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal-recessive inborn disorder of bile acid metabolism due to mutations in the CYP27A1 gene. It presents with a diverse range of neurological and non-neurological symptoms. We present a case of CTX with
Karan M. Desai, Piyush Kumar, Parthvi S. Ravat, Sangeeta H. Ravat, Neeraj Jain, Shruti Agrawal, Rahil Ansari   +6 more
doaj   +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

Cerebrotendinous xanthomatosis: pathopahysiological study on bone metabolism

, 1993
A condition of osteopenia in some cerebrotendinous xanthomatosis (CTX) patients led us to investigate bone metabolism in 8 patients belonging to 5 families. Serum calcium, phosphate and vitamin D metabolites were in the normal range; a reduction in total
FEDERICO, A., DOTTI, M. T., LORE, F., NUTI, R.   +3 more
core   +1 more source