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Cerebrotendinous xanthomatosis.
Björkhem I. Björkhem I. Curr Opin Lipidol. 2013 Aug;24(4):283-7. doi: 10.1097/MOL.0b013e328362df13. Curr Opin Lipidol. 2013. PMID: 23759795 Review.
PURPOSE OF REVIEW: Cerebrotendinous xanthomatosis (CTX) is a rare neurological disease characterized by accumulation of cholesterol and cholestanol in brain and tendons caused by a mutation in the sterol 27-hydroxylase gene (CYP27A1). ...SUMMARY: The mechanism behin …
PURPOSE OF REVIEW: Cerebrotendinous xanthomatosis (CTX) is a rare neurological disease characterized by accumulation of cholesterol a …
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, Kuivenhoven JA, Nordestgaard BG, Descamps OS, Steinhagen-Thiessen E, Tybjærg-Hansen A, Watts GF, Averna M, Boileau C, Borén J, Catapano AL, Defesche JC, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Ray KK, Stalenhoef AF, Stroes E, Taskinen MR, Wiegman A, Wiklund O, Chapman MJ; European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia. Cuchel M, et al. Eur Heart J. 2014 Aug 21;35(32):2146-57. doi: 10.1093/eurheartj/ehu274. Epub 2014 Jul 22. Eur Heart J. 2014. PMID: 25053660 Free PMC article.
Genetic testing may provide a definitive diagnosis, but if unavailable, markedly elevated LDL-C levels together with cutaneous or tendon xanthomas before 10 years, or untreated elevated LDL-C levels consistent with heterozygous FH in both parents, are suggestive of HoFH. . …
Genetic testing may provide a definitive diagnosis, but if unavailable, markedly elevated LDL-C levels together with cutaneous or tendon …
Lipid-associated rheumatologic syndromes.
Kedar E, Gardner GC. Kedar E, et al. Rheum Dis Clin North Am. 2013 May;39(2):481-93. doi: 10.1016/j.rdc.2013.02.014. Epub 2013 Mar 19. Rheum Dis Clin North Am. 2013. PMID: 23597975 Review.
On the other hand, a rheumatologist may be the clinician who identifies and initiates proper therapy for disorders related to hyperlipidemia when the musculoskeletal manifestations of these syndromes are recognized. In this article both the joint and tendon manifestations …
On the other hand, a rheumatologist may be the clinician who identifies and initiates proper therapy for disorders related to hyperlipidemia …
Movement disorders in cerebrotendinous xanthomatosis.
Stelten BML, van de Warrenburg BPC, Wevers RA, Verrips A. Stelten BML, et al. Parkinsonism Relat Disord. 2019 Jan;58:12-16. doi: 10.1016/j.parkreldis.2018.07.006. Epub 2018 Jul 19. Parkinsonism Relat Disord. 2019. PMID: 30054180 Review.
Cerebrotendinous xanthomatosis (CTX) is an inborn error of cholesterol and bile acid metabolism, leading to neuropsychiatric and systemic manifestations. ...Unusual movement disorders represent a rare clinical feature in CTX, but CTX should be considered in the differentia …
Cerebrotendinous xanthomatosis (CTX) is an inborn error of cholesterol and bile acid metabolism, leading to neuropsychiatric and syst …
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).
Salen G, Steiner RD. Salen G, et al. J Inherit Metab Dis. 2017 Nov;40(6):771-781. doi: 10.1007/s10545-017-0093-8. Epub 2017 Oct 4. J Inherit Metab Dis. 2017. PMID: 28980151 Review.
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by mutations in the cytochrome P450 CYP27A1 gene that result in production of a defective sterol 27-hydroxylase enzyme. CTX is associated with abnormally high levels o …
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by mutations in the cytochr …
[Xanthomas].
de Schaetzen V, Richert B, de la Brassinne M. de Schaetzen V, et al. Rev Med Liege. 2004 Jan;59(1):46-50. Rev Med Liege. 2004. PMID: 15035543 Free article. Review. French.
Xanthomas are cutaneous lesions due to a local accumulation of spumous cells in the dermal tissue or the tendons. Histologically, they are characterized by the presence of histiocytes, fibroblasts, macrophages and Touton cells full of lipids. ...
Xanthomas are cutaneous lesions due to a local accumulation of spumous cells in the dermal tissue or the tendons. Histologically, the …
Five decades with oxysterols.
Björkhem I. Björkhem I. Biochimie. 2013 Mar;95(3):448-54. doi: 10.1016/j.biochi.2012.02.029. Epub 2012 Mar 1. Biochimie. 2013. PMID: 23111110 Review.
Accumulation of 7alpha-hydroxy-4-cholesten-3-one in patients with lack of sterol 27-hydroxylase (Cerebrotendinous xanthomatosis was shown to be an important pathogenetic factor. This disease is characterized by cholestanol-containing xanthomas in tendons and brain a …
Accumulation of 7alpha-hydroxy-4-cholesten-3-one in patients with lack of sterol 27-hydroxylase (Cerebrotendinous xanthomatosis was s …
Tendons Involvement in Congenital Metabolic Disorders.
Abate M, Salini V, Andia I. Abate M, et al. Adv Exp Med Biol. 2016;920:117-22. doi: 10.1007/978-3-319-33943-6_10. Adv Exp Med Biol. 2016. PMID: 27535253 Review.
Only few of these diseases are characterized by a clinically significant tendon involvement.Heterozygous Familial Hypercholesterolaemia results from the inheritance of a mutant low-density lipoprotein receptor gene; patients show high cholesterol levels, precocious coronar …
Only few of these diseases are characterized by a clinically significant tendon involvement.Heterozygous Familial Hypercholesterolaem …
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
Nie S, Chen G, Cao X, Zhang Y. Nie S, et al. Orphanet J Rare Dis. 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. Orphanet J Rare Dis. 2014. PMID: 25424010 Free PMC article. Review.
Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. ...Clinical signs and …
Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27 …
Xanthomas: clinical and pathophysiological relations.
Zak A, Zeman M, Slaby A, Vecka M. Zak A, et al. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2014 Jun;158(2):181-8. doi: 10.5507/bp.2014.016. Epub 2014 Apr 29. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2014. PMID: 24781043 Free article. Review.
BACKGROUND: Xanthomas are well circumscribed lesions in the connective tissue of the skin, tendons or fasciae that predominantly consist of foam cells; these specific cells are formed from macrophages as a result of an excessive uptake of low density lipoprotein (LDL) part …
BACKGROUND: Xanthomas are well circumscribed lesions in the connective tissue of the skin, tendons or fasciae that predominantly cons …
55 results