Results 91 to 100 of about 5,605 (209)

Cerebrotendinous Xanthomatosis In A Family

Indian Journal of Dermatology, 1999
A family consisting of a brother (11 years) and his twin sisters (13 years) with cerebrotendinous xanthomatosis is presented. The brother had bilateral achilles tendon xanthoma, low intelligence, poor memory with early cerebellar signs.
Chatterjee Gobinda, Chakraborty Indranil, Kanti Das Tushar, Datta Chhanda   +3 more
doaj  

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees

Journal of Lipid Research, 2001
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid biosynthesis. Clinically, CTX patients present with tendon xanthomas, juvenile cataracts, and progressive neurological dysfunction and can be diagnosed by the ...
Mi-Hye Lee, Starr Hazard, John D. Carpten, Sonia Yi, Jonathan Cohen, Glenn T. Gerhardt, Gerald Salen, Shailendra B. Patel   +7 more
doaj   +1 more source

Comparing glaucoma risk in children receiving low‐dose and high‐dose glucocorticoid treatment after cataract surgery

Acta Ophthalmologica, Volume 103, Issue 1, Page 43-49, February 2025.
Abstract Purpose Treatment with glucocorticoids following paediatric cataract surgery is crucial to prevent inflammation, but may lead to secondary glaucoma, and hypothalamic–pituitary–adrenal axis suppression. We wish to compare glaucoma outcomes following high‐dose and low‐dose glucocorticoid treatment after paediatric cataract surgery.
Diana Chabané Schmidt, Torben Martinussen, Ameenat Lola Solebo, Dorte Ancher Larsen, Daniella Bach‐Holm, Line Kessel   +5 more
wiley   +1 more source

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

Orphanet Journal of Rare Diseases, 2019
Background Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have
Qing-Qing Tao, Yun Zhang, Hui-Xia Lin, Hai-Lin Dong, Wang Ni, Zhi-Ying Wu   +5 more
doaj   +1 more source

Investigating ITM2B‐associated ataxia in a Taiwanese cerebellar ataxia cohort

Annals of Clinical and Translational Neurology, Volume 12, Issue 1, Page 158-168, January 2025.
Abstract Objective The genetic causes of a significant number of patients with cerebellar ataxia remain unsolved. Variations in the ITM2B gene, typically linked to dominantly inherited dementia, can sometimes present with cerebellar ataxia as an early symptom.
Shih‐Yu Fang, Cheng‐Tsung Hsiao, Kang‐Yang Jih, Yu‐Sheun Tsai, Kuan‐Lin Lai, Cheng‐Ta Chou, Yi‐Chu Liao, Yi‐Chung Lee   +7 more
wiley   +1 more source

Imaging of adult leukodystrophies [PDF]

, 2014
Leukodystrophies are genetically determined white matter disorders. Even though leukodystrophies essentially affect children in early infancy and childhood, these disorders may affect adults.
Abdelhalim AN, Anderson Rodrigues Brandão, Balbi P, Bock V, Bugiani M, Chabriat H, Chebel S, Claudia Costa Leite, Coffeen CM, Costello DJ, Debs R, Eichler F, Federico A, Fernando Kok, Finnsson J, Fukutake T, Germana Titoneli Santos, Gleselmann V, Itoh N, Kilic SA, Klünemann HH, Köhler W, Leandro Tavares Lucato, Lyon G, Martin A, Mauricio Castillo, Melberg A, Moser HW, Namekawa Y, Pareyson D, Pudhiavan A, Raymond GV, Sasaki A, Sawaishi Y, Schiffmann R, Schiffmann R, Sedel F, Wider C   +37 more
core   +3 more sources

Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation

Stem Cell Research, 2016
Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts from a 60-year-old cerebrotendinous xanthomatosis (CTX) patient, carrying a homozygous mutation c. [1183C>A]; p. R395S in CYP27A1.
Philip Höflinger, Stefan Hauser, Yvonne Theurer, Stefanie Weißenberger, Carlo Wilke, Ludger Schöls   +5 more
doaj   +1 more source

CEREBROTENDINOUS XANTHOMATOSIS: HEARD OF IT? [PDF]

, 2015
Cerebrotendinous Xanthomatosis (CTX) is a rare, autosomal recessive, lipid storage disorder, characterized by the accumulation of cholesterol and cholestanol, predominantly in the brain, spinal cord, peripheral nerves, tendons, lungs, liver, and kidneys.
Nair, Rajesh Parameshwaran, Nayal, Bhavna, Sankalp   +2 more
core   +1 more source

Update on leukodystrophies and developing trials [PDF]

, 2023
Leukodystrophies are a heterogeneous group of rare genetic disorders primarily affecting the white matter of the central nervous system. These conditions can present a diagnostic challenge, requiring a comprehensive approach that combines clinical ...
Ceravolo, G, Gitto, E, Hartley, L, Houlden, H, Pellerin, D, Squadrito, V, Zhelcheska, K   +6 more
core