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Literature DB >> 2611184

Case of cerebrotendinous xanthomatosis. I: Unusual ophthalmic features.

Abstract

A case of cerebrotendinous xanthomatosis is reported. In addition to the classical ophthalmic and systemic features the patient presented with unilateral proptosis. This feature has never previously been reported. The results of investigations are described and illustrated.

Entities: Disease Species

Mesh：

Substances：
Ursodeoxycholic Acid

Year: 1989 PMID： 2611184 PMCID： PMC1041958 DOI： 10.1136/bjo.73.12.1011

Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638

8 in total

1. Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis.

Authors: G Salen; T W Meriwether; G Nicolau
Journal: Biochem Med Date: 1975-09

2. Cerebrotendinous xanthomatosis: more on diagnosis and treatment.

Authors: R J Waterreus; B J Koopman
Journal: Neurology Date: 1987-06 Impact factor: 9.910

3. Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism.

Authors: G Salen
Journal: Ann Intern Med Date: 1971-12 Impact factor: 25.391

4. Psychiatric disorders in patients with cerebrotendinous xanthomatosis.

Authors: V M Berginer; N L Foster; M Sadowsky; J A Townsend; G J Siegel; G Salen
Journal: Am J Psychiatry Date: 1988-03 Impact factor: 18.112

5. Cerebrotendinous xanthomatosis.

Authors: A S Truswell; P J Pfister
Journal: Br Med J Date: 1972-02-05

6. Bile acid therapies applied to patients suffering from cerebrotendinous xanthomatosis.

Authors: B J Koopman; B G Wolthers; J C van der Molen; R J Waterreus
Journal: Clin Chim Acta Date: 1985-10-31 Impact factor: 3.786

7. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid.

Authors: V M Berginer; G Salen; S Shefer
Journal: N Engl J Med Date: 1984-12-27 Impact factor: 91.245

8. A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain.

Authors: T Setoguchi; G Salen; G S Tint; E H Mosbach
Journal: J Clin Invest Date: 1974-05 Impact factor: 14.808

8 in total

1. Isolevuglandins and mitochondrial enzymes in the retina: mass spectrometry detection of post-translational modification of sterol-metabolizing CYP27A1.

Authors: Casey Charvet; Wei-Li Liao; Gun-Young Heo; James Laird; Robert G Salomon; Illarion V Turko; Irina A Pikuleva
Journal: J Biol Chem Date: 2011-04-15 Impact factor: 5.157

2. Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings.

Authors: M T Dotti; A Rufa; A Federico
Journal: J Inherit Metab Dis Date: 2001-12 Impact factor: 4.982

3. Abnormal vascularization in mouse retina with dysregulated retinal cholesterol homeostasis.

Authors: Saida Omarova; Casey D Charvet; Rachel E Reem; Natalia Mast; Wenchao Zheng; Suber Huang; Neal S Peachey; Irina A Pikuleva
Journal: J Clin Invest Date: 2012-07-23 Impact factor: 14.808

4. Cholestenoic Acid is an important elimination product of cholesterol in the retina: comparison of retinal cholesterol metabolism with that in the brain.

Authors: Natalia Mast; Rachel Reem; Ilya Bederman; Suber Huang; Pier Luigi DiPatre; Ingemar Bjorkhem; Irina A Pikuleva
Journal: Invest Ophthalmol Vis Sci Date: 2011-02-01 Impact factor: 4.799

5. Features of the retinal environment which affect the activities and product profile of cholesterol-metabolizing cytochromes P450 CYP27A1 and CYP11A1.

Authors: Gun-Young Heo; Wei-Li Liao; Illarion V Turko; Irina A Pikuleva
Journal: Arch Biochem Biophys Date: 2011-12-29 Impact factor: 4.013