Cerebrotendinous xanthomatosis: A rare disease with diverse manifestations

Archives of Neurology

Volumn 59, Issue 4, 2002, Pages 527-529

  Moghadasian, Mohammed H ^a   Salen, Gerald ^b,c   Frohlich, Jiri J ^a   Scudamore, Charles H ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^c VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHENODEOXYCHOLIC ACID; CHOLESTANOL; GLUCURONIDE;

ACHILLES TENDON; ATHEROSCLEROSIS; CATARACT; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL FEATURE; DIARRHEA; GENE MUTATION; HUMAN; LABORATORY DIAGNOSIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SHORT SURVEY; SYMPTOM; XANTHOMA;

EID: 0036216339     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.59.4.527     Document Type: Short Survey

References (14)

1. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis
2. Transformation of 4-cholesten-3-one and 7α-hydroxy-4-cholesten-3-one into cholestanol and bile acids in cerebrotendinous xanthomatosis
3. Cerebrotendinous xanthomatosis: A review of biochemical findings of the patient population in the Netherlands
4. Cholestanol deposition in cerebrotendinous xanthomatosis: A possible mechanism
5. The metabolism of cholestanol, cholesterol, and bile acids in cerebrotendinous xanthomatosis
6. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
7. Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis: Effect of chenodeoxycholic acid
8. Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family
9. Aneurysmal coronary artery disease in cerebrotendinous xanthomatosis
10. Chenodeoxycholic acid normalizes elevated lipoprotein secretion and catabolism in cerebrotendinous xanthomatosis
11. A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis
12. Cerebrotendinous xanthomatosis: Pathophysiological study on bone metabolism
13. Progression of aortic calcification is associated with metacarpal bone loss during menopause: A population-based longitudinal study
14. Treatment of cerebrotendinous xanthomatosis: Effects of chenodeoxycholic acid, pravastatin, and combined use