Cerebrotendineous xanthomatosis

Cerebrotendineous xanthomatosis
Cerebrotendineous xanthomatosis
Classification and external resources
ICD-10 E75.5
ICD-9 272.7
OMIM 213700
DiseasesDB 29239
MeSH D019294

Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis,[1] is an autosomal recessive form of xanthomatosis.[2][3]

Contents

Characteristics

An inherited disorder associated with the deposition of a form of cholesterol (cholestanol) in the brain and other tissues and with elevated levels of cholesterol in plasma but with normal total cholesterol level; it is characterized by progressive cerebellar ataxia beginning after puberty and by juvenile cataracts, and tendineous or tuberous xanthomas.

Cause and Genetics

Cerebrotendineous xanthomatosis has an autosomal recessive pattern of inheritance.

CTX is associated with mutations in the CYP27A1 gene, located on chromosome 2q33-qter.[1][4] The disorder is inherited in an autosomal recessive manner.[2] This means the defective gene responsible for the disorder is located on an autosome (chromosome 2 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

Treatment

The standard treatment is chenodeoxycholic acid (CDCA) replacement therapy. Serum cholesterol levels are also followed. If hypercholesterolemia is not controlled with CDCA, an HMG-CoA reductase inhibitor ("statins" such as simvastatin) can also be used. [5]

Eponym

It is also known as "Van Bogaert-Scherer-Epstein syndrome".[6][7]

See also

References

  1. ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 213700
  2. ^ a b Pilo de la Fuente B, Ruiz I, Lopez de Munain A, Jimenez-Escrig A (May 2008). "Cerebrotendinous xanthomatosis: Neuropathological findings". J. Neurol. 255 (6): 839. doi:10.1007/s00415-008-0729-6. PMID 18458861. 
  3. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 535. ISBN 0-7216-2921-0. 
  4. ^ Online 'Mendelian Inheritance in Man' (OMIM) 606530
  5. ^ http://emedicine.medscape.com/article/1418820-treatment
  6. ^ synd/1452 at Who Named It?
  7. ^ L. van Bogaert, H. J. Scherer, E. Epstein. Une forme cérébrale de la cholestérinose généralisée (type particulier de lipidose à cholestérine). Paris, Masson, 1937.

External links


Wikimedia Foundation. 2010.

Игры ⚽ Нужна курсовая?

Look at other dictionaries:

  • CYP27A1 — Cytochrome P450, family 27, subfamily A, polypeptide 1, also known as CYP27A1, is a vertebrate gene.cite web | title = Entrez Gene: CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1| url =… …   Wikipedia

  • Cholesteryl ester storage disease — Template:Cholesteryl Ester Storage Disease (CESD) Classification and external resources ICD 10 E75.5 ICD 9 272.7 …   Wikipedia

  • Familial hypercholesterolemia — Classification and external resources Xanthelasma palpebrarum, yellowish patches consisting of cholesterol deposits above the eyelids. These are more common in people with FH. ICD …   Wikipedia

  • Inborn error of lipid metabolism — Classification and external resources Several fatty acid molecules ICD 10 E75 …   Wikipedia

  • Gaucher's disease — Classification and external resources Acid beta glucosidase ICD 10 E75 …   Wikipedia

  • CTX — is a three letter abbreviation with multiple meanings, as described below: * CTX (computer virus) * CTX notebook computers * CTX (explosive detection device) * Cefotaxime (antibiotic) * Centrex (telephone service) * Charybdotoxin * Cholera toxin… …   Wikipedia

  • Krabbe disease — Classification and external resources ICD 10 E75.2 ICD 9 330.0 …   Wikipedia

  • Leukodystrophy — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 32504 ICD10 = ICD10|E|71|3|e|70, ICD10|E|75|2|e|70 ICD9 = ICD9|330.0 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Leukodystrophy refers to a group of disorders… …   Wikipedia

  • Neuronal ceroid lipofuscinosis — Classification and external resources ICD 10 E75.4 ICD 9 330.1 …   Wikipedia

  • Metachromatic leukodystrophy — Classification and external resources Sulfatide ICD 10 E75.2 …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”