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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Some individuals with the adult symptoms of CTX experienced cholestatic jaundice during infancy.


Approximately cases have been reported worldwide. Successful long-term treatment of a number of affected individuals identified as children has cerebrotenfinous reported in the literature. The treatment produces a substantial reduction in cholestanol synthesis and lowers the cholestanol levels. Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis.

CTX is classified as a bile acid synthesis disorder due to the underlying genetic cerebrotendious that causes deficiency in an important enzyme in the bile acid synthesis pathway; sterol hydroxylase. Patients with CTX often have an increased incidence of prolonged unexplained neonatal cholestatic jaundice. Management and treatment First-line treatment is based on chenodeoxycholic acid CDCA replacement therapy, which normalizes BAS and cholestanol concentrations, and improves neurological symptoms.

Some early deaths in infancy have also been reported. Medical geneticsEndocrinology. CTX should be suspected in patients with some combination of infantile onset diarrhea, juvenile onset bilateral cataracts, adolescent to young adult-onset tendon xanthoma, and adult-onset progressive neurologic dysfunction.

Cerebrotendineous xanthomatosis

This manifestation is almost a universal characteristic of CTX. The authors suggested that normolipemic xanthomatosis is a distinct entity inherited as an autosomal recessive and that it should be classified as a reticuloendotheliosis.


The girl had distal tremor at age For information about clinical trials conducted in Europe, contact: Populations with a higher prevalence of CTX exist, for example in an isolated Israeli Druze community a carrier frequency of 1: Treatment of CTX in the preclinical stage can reportedly prevent the onset of disease complications. Xanthomata may appear in the 2nd or 3rd decade of life, in the Achilles and other tendons elbow, hand, patella, neck. Fleck lenticular deposits may be an early sign of CTX.

Characterization of human sterol hydroxylase. Researchers have recently shown that CTX patients who started treatment after the age of 25 years had worse outcome and were significantly more limited in ambulation and more cognitively impaired than those that started treatment before the age of 25 years.

Cerebrotendinous Xanthomatosis (CTX) – EyeWiki

CC HPO: This enzyme is responsible for the final step of cholesterol production. Most often these xanthomas occur on the Achilles tendons.

Eye care professionals are in a unique position to identify and diagnose CTX at a time when serious disability can be prevented. CTX is diagnosed based on a thorough clinical evaluation, a detailed patient and family history, identification of characteristic findings, and a variety of specialized tests including genetic testing and biochemical tests on blood and urine.

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.

Achilles tendon xanthomas in 15 of 17cataracts in 12 of 17dementia in 13 of 17cerebrotenrinous signs in all 17cerebellar dysfunction in 13 of 17EEG changes in 10 of 13and abnormal cerebral CT scans in 10 of The initial clinical manifestation may be neonatal cholestasis or chronic diarrhea from infancy. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid.


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 Hereditary xanthmoatosis and tuberous xanthomatosis without hyperlipidemia: Although not generally considered a hallmark manifestation, a significant amount of individuals with CTX have reported seizure activity.

The diagnosis can be made by demonstrating cholestanol in abnormal amounts in the serum and tendon of persons suspected of being affected.

Enroll in the Residents and Fellows contest. Peripheral neuropathy in cerebrotendinous xanthomatosis. Cerebrotendinous xanthomatosis CTX is a rare autosomal recessive genetic disorder caused by an abnormality in the CYP27A1 gene, resulting in a xanthomstosis of the mitochondrial enzyme sterol hydroxylase. Diarrhea is often resistant to treatment intractable. Other MRI findings may show signal alterations of the cerebral peduncle, corona radiate, and subcortical white matter.

Cerebrotendinous Xanthomatosis (CTX)

Une deuxieme observation de cholesterinose tendineuse symetrique avec symptomes cerebraux. The production of newly synthesized bile acids is increased to compensate for that loss. Some of these lesions appeared to be xanthomata. Clinical relevance of brain volume changes in patients with cerebrotendinous cerebrotendinoue. Last Updated February 20, Alone we are rare. Please consider making a donation now and again in the future.