This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (21)  • Contact me when this article is cited  Related Content  • Related article  • Similar articles in this journal  Topic Collections  • Neurology, Other  • Alert me on articles by topic  Social Bookmarking   What's this?

A Rare Disease With Diverse Manifestations

Mohammed H. Moghadasian, PhD; Gerald Salen, MD; Jiri J. Frohlich, MD; Charles H. Scudamore, MD

Arch Neurol. 2002;59:527-529.

This mini-review deals with a new appraisal of cerebrotendinous xanthomatosis. In addition to neurologic symptoms, patients with cerebrotendinous xanthomatosis develop cataracts, diarrhea, Achilles tendon xanthoma, atherosclerotic vascular disease, and many other abnormalities. Although the pathophysiology of the disease is not completely understood, excess production and consequent accumulation of cholestanol in tissues may play a crucial role. Chenodeoxycholic acid is the most effective therapy. The causative role and detrimental effects (at a low plasma level) of cholestanol merit further investigation.

From the Departments of Pathology and Laboratory Medicine (Drs Moghadasian and Frohlich) and Surgery (Dr Scudamore), University of British Columbia, Vancouver; and Departments of Medicine, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark (Dr Salen), and Veterans Affairs Medical Center, East Orange, NJ (Dr Salen).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

RELATED ARTICLE

Archives of Neurology Reader's Choice: Continuing Medical Education
Arch Neurol. 2002;59(4):655-656.
FULL TEXT  

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5
Goizet et al.
Brain 2009;132:1589-1600.
ABSTRACT | FULL TEXT  

Regulation of Human Vitamin D3 25-Hydroxylases in Dermal Fibroblasts and Prostate Cancer LNCaP Cells
Ellfolk et al.
Mol. Pharmacol. 2009;75:1392-1399.
ABSTRACT | FULL TEXT  

Achilles tendon enlargement and unsteady gait
Selva-O'Callghan et al.
Rheumatology (Oxford) 2007;46:1212-1213.
FULL TEXT  

Phenotypic heterogeneity of sitosterolemia
Wang et al.
J. Lipid Res. 2004;45:2361-2367.
ABSTRACT | FULL TEXT  

Transcriptional Regulation of Human CYP27 Integrates Retinoid, Peroxisome Proliferator-Activated Receptor, and Liver X Receptor Signaling in Macrophages
Szanto et al.
Mol. Cell. Biol. 2004;24:8154-8166.
ABSTRACT | FULL TEXT  

Cerebrotendinous Xanthomatosis: Juvenile Cataract and Chronic Diarrhea Before the Onset of Neurologic Disease
Cruysberg
Arch Neurol 2002;59:1975-1975.
FULL TEXT