Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disorder caused by an abnormality in the CYP27A1 gene, resulting in a deficiency. Disease definition. Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis. Cerebrotendinous xanthomatosis is a rare inherited lipid-storage disease characterized clinically by progressive neurologic dysfunction (cerebellar ataxia.

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It may show bilateral hyperintensity of the dentate nuclei and cerebral and cerebotendinous white matter. Due to the nature of the biochemical defect, the cholestanol concentration in blood or plasma derived from blood is high, while the plasma cholesterol concentration is normal to low.

The CT scan improved in 7, including 1 patient in whom xanthomatoeis cerebellar xanthoma disappeared. Defective enzymatic function disrupts bile acid synthesis leading to cholesterol and cholestanol deposits, which result in a degenerative process.

Cerebrotendineous xanthomatosis

Bile acids chenodeoxycholic and cholic acid are synthesized in the liver. N Engl J Med.

Dystonia is generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions postures.

Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis. In fibroblasts from 3 patients with CTX, hydroxylation proceeded at a rate only 0. Infants may present with cholestasis and liver dysfunction. Diagnosis in adults is based on two of the following criteria: Affected individuals can experience diarrhea and cataracts in childhood and may develop benign, fatty tumors xanthomas of the tendons during adolescence.

The specific symptoms and progression of this disorder can vary greatly from one individual to another, even for twins with the same abnormality in the CYP27A1 gene.

Cerebrotendinous Xanthomatosis – NORD (National Organization for Rare Disorders)

CDCA treatment alone reduced serum cholestanol, but the sera of the patients on this treatment became more ‘atherogenic’ with an increase in total cholesterol, triglyceride, and low-density lipoprotein cholesterol, and a decrease in high-density lipoprotein cholesterol.


Complex sample preparation and a lengthy analysis time make GC-MS testing a specialized and time-consuming technique. Some patients show intellectual impairment from infancy, but most have normal or subnormal intellectual function until puberty.

Clinical xajthomatosis and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis. Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis CTXalso called cerebral cholesterosis[1] is an autosomal recessive form of xanthomatosis.

Cerebrotendinous xanthomatosis CTX is an anomaly of bile acid synthesis see this term characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

In cultured skin fibroblasts, Skrede et al. If untreated, CTX can lead to progressive neurologic problems in young adulthood such as seizures, ataxia and dementia. These tests may show cerebellar lesions and white matter damage in individuals with CTX.

Achilles tendon xanthomas in 15 of 17cataracts in 12 of 17dementia in 13 of 17pyramidal-tract signs in all 17cerebellar dysfunction in 13 of 17EEG changes in 10 of 13and abnormal cerebral CT scans in 10 of Symptoms include clusters of fatty tumors in the skin of joints tuberous xanthomason the tendons tendon xanthomasplaque deposits in the arteries atherosclerosisand coronary artery disease.

Cerebrotendineous xanthomatosis – Wikipedia

Both patients had high plasma levels of cholestanol. Image permission and courtesy of Retrophin, Inc. TEXT A number sign is used with this entry because cerebrotendinous xanthomatosis is caused by homozygous or compound heterozygous mutation in the CYP27A1 genewhich encodes sterol hydroxylase, on chromosome 2q OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by cerebrotendjnous researchers, and by advanced students in science and medicine.

Cholesterol can be synthesized in many tissues but oxidation is virtually limited to the liver. Furthermore, untreated zanthomatosis showed increased levels of apolipoprotein B and albumin. Treatment with chenodeoxycholic acid normalizes the production of cholestanol. In addition to cataracts, which were found in all cases, optic disc pallor was identified in 6 of the patients. The authors concluded that spinal xanthomatosis should be included in the differential diagnosis of chronic myelopathy.


Health care resources for this disease Expert centres Diagnostic tests 71 Patient organisations 68 Orphan drug s 6. Disease definition Cerebrotendinous xanthomatosis CTX is an anomaly of bile acid synthesis see this term characterized by neonatal cholestasis, childhood-onset cataract, adolescent xanthomaotsis young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

Genetic counseling should be offered to affected families. He had no cataract or ataxia. In a year-old man with an cerebrltendinous CTX phenotype involving no mental retardation but a progressive neuropsychiatric xathomatosis beginning at age 44, Guyant-Marechal et al.

In addition, the xanthomatosjs of plasma bile acid precursors is high, and the concentration of bile alcohols in bile, urine and plasma is increased. Other search option s Alphabetical list. Serum cholesterol levels are also followed.

After significant disease progression, treatment does not readily reverse neurological deficits that have already occurred.

This gene is responsible for producing an enzyme called sterol hydroxylase. This disorder is more common in the Moroccan Jewish population with a reported incidence of 1 in J Inherit Metab Dis. At autopsy many deposits were found in the verebrotendinous matter of the cerebellum and the cerebral peduncles.

During CT scanning, a computer and x-rays are used to cerebrotendious a film showing cross-sectional images of certain tissue structures. Cardiovascular disease has been reported in individuals with CTX, although the exact prevalence of this finding is unknown. The authors suggested that normolipemic xanthomatosis is a distinct entity inherited as an autosomal recessive and that it should be classified as a reticuloendotheliosis.

Cerebrotendinous Xanthomatosis (CTX)

Genetic counseling Transmission is autosomal recessive. Views Read Edit View history. This page has been accessed 11, times.