Format

Send to

Choose Destination
See comment in PubMed Commons below
Curr Opin Lipidol. 2013 Aug;24(4):283-7. doi: 10.1097/MOL.0b013e328362df13.

Cerebrotendinous xanthomatosis.

Author information

  • 1Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden. ingemar.bjorkhem@karolinska.se

Abstract

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). The mechanism behind the accumulation of cholestanol in the brain was recently clarified and a role of 27-hydroxycholesterol as a regulator of brain cholesterol homeostasis has been established.

RECENT FINDINGS:

There is a significant flux of the bile acid precursor 7α-hydroxy-4-cholesten-3-one across the blood-brain barrier in cy27-/- mice with its subsequent conversion into cholestanol. CTX patients with white matter lesions and vacuolation are described. CYP27A1 was identified as a candidate gene for sporadic amyotrophic lateral sclerosis (ALS).

SUMMARY:

The mechanism behind accumulation of cholestanol in brain and tendons of patients with CTX has been clarified but it is not known why this accumulation is associated with parallel accumulation of cholesterol and formation of xanthomas. Further studies are needed to understand why some patients with CTX develop white matter lesions in the brain. In view of the fact that CTX can present with upper motor neuronal signs it is interesting that CYP27 has been shown to be a candidate gene for sporadic ALS.

PMID:
23759795
DOI:
10.1097/MOL.0b013e328362df13
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Lippincott Williams & Wilkins
    Loading ...
    Support Center