WordNet

a camper equipped with living quarters (同)caravan
(Great Britain) a closed railroad car that carries baggage or freight
a truck with an enclosed cargo space
a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
British sculptor (born in the United States) noted for busts and large controversial works (1880-1959) (同)Jacob Epstein, Sir Jacob Epstein

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有蓋トラック,ほろつきトラック(家具・商品・家畜などの運搬用に使われる) / 《英》=boxcar
(行進中の軍隊・航行中の艦隊の)先頭 / (政治・社会・芸術運動などの)先頭
(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
verb / verso / 《話》very / velocity / volt[s] / volume / vide

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/10/30 19:46:49」(JST)

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Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis,^[1] is an autosomal recessive form of xanthomatosis.^[2]^[3] It falls within a group of genetic disorders called the leukodystrophies.

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, juvenile or infantile onset chronic diarrhea, childhood neurological deficit, 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]

References

^ ^a ^b Online 'Mendelian Inheritance in Man' (OMIM) 213700
^ ^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): 839–42. doi:10.1007/s00415-008-0729-6. PMID 18458861.
^ 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.
^ Online 'Mendelian Inheritance in Man' (OMIM) 606530
^ Cerebrotendinous Xanthomatosis~treatment at eMedicine
^ synd/1452 at Who Named It?
^ 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

GeneReviews/NCBI/NIH/UW entry on Cerebrotendinous Xanthomatosis
CTX Patient Advocate/Support site

UpToDate Contents

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English Journal

Outline of metabolic diseases in adult neurology.

Mochel F1.
Revue neurologique.Rev Neurol (Paris).2015 Jun-Jul;171(6-7):531-8. doi: 10.1016/j.neurol.2015.02.018. Epub 2015 May 20.
INTRODUCTION: Inborn errors of metabolism (IEM) are traditionally defined by enzymatic deficiencies or defects in proteins involved in cellular metabolism. Historically discovered and characterized in children, a growing number of IEM are described in adults, and especially in the field of neurology
PMID 26002495

Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion.

Abe R, Sekijima Y, Kinoshita T, Yoshinaga T, Koyama S, Kato T, Ikeda SI.
The journal of spinal cord medicine.J Spinal Cord Med.2015 May 5. [Epub ahead of print]
Context Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited lipid storage disease caused by mutation in the CYP27A1 gene. Spinal form CTX is a rare clinical subgroup of CTX and only 14 patients from 11 families have been reported to date. Here, we report the first Asian patien
PMID 25941960

Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis.

Nicholls Z1, Hobson E1, Martindale J2, Shaw PJ1.
Practical neurology.Pract Neurol.2015 Apr 10. pii: practneurol-2015-001117. doi: 10.1136/practneurol-2015-001117. [Epub ahead of print]
Cerebrotendinous xanthomatosis is an autosomal recessive disorder of bile acid metabolism causing a range of progressive neurological symptoms. Even in the presence of the classical triad of neurological dysfunction, tendon xanthoma and early onset cataracts, the diagnosis is often missed. It can mi
PMID 25862734