Cerebrotendinous Xanthomatosis - Symptoms, Causes, Treatment | NORD (2024)

Disease Overview


Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disorder caused by an abnormality in the CYP27A1 gene, resulting in a deficiency of the mitochondrial enzyme sterol 27-hydroxylase. The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodeoxycholic acid. Deposits of cholesterol and a related compound called cholestanol accumulate in the nerve cells and membranes potentially causing damage to the brain, spinal cord, tendons, lens of the eye and arteries. Affected individuals can experience diarrhea and cataracts in childhood and may develop benign, fatty tumors (xanthomas) of the tendons during adolescence. If untreated, CTX can lead to progressive neurologic problems such as seizures, cognitive impairment, and difficulties with coordination and balance (ataxia). Coronary heart disease is common. Some individuals with the later-onset symptoms of CTX experienced cholestatic jaundice during infancy. 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. Long-term therapy with chenodeoxycholic acid has been effective in treating affected individuals.


CTX was first described in the medical literature in 1937. CTX is classified as a bile acid synthesis disorder (due to the underlying genetic mutation that causes deficiency in an important enzyme in the bile acid synthesis pathway; sterol 27-hydroxylase). Bile acids (chenodeoxycholic and cholic acid) are mostly synthesized in the liver. They are an important component of bile and help the intestine to absorb fats. The disorder can also be classified as a lipid storage disorder (due to fat deposition in various tissues of the body) or a leukodystrophy (due to the involvement of central nervous system white matter).

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  • cerebral cholesterinosis
  • CTX
  • sterol 27-hydroxylase deficiency
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Signs & Symptoms

The presentation of CTX is highly variable and is associated with a wide range of potential abnormalities. Originally, the disorder was believed only to be a neurological disorder of abnormal fat (lipid) storage not associated with liver disease. It is now known that CTX can occasionally present in childhood with cholestatic liver disease that can be severe or can be mild and resolve on its own in individuals who may later develop other complications of the disorder such as neurological disease. Cholestatic liver disease refers to the interruption or suppression of the flow of bile from the liver (cholestasis). Features of cholestasis include yellowing of the skin, mucous membranes and whites of the eyes (jaundice), failure to thrive, and growth deficiency. Enlargement of the liver (hepatomegaly) and/or spleen (splenomegaly) may also occur.

Generally, systemic symptoms develop earlier than neurologic symptoms. The first symptom may be chronic diarrhea in infancy. Diarrhea is often resistant to treatment (intractable). Infantile spasms have also been reported as a possible symptom. Juvenile cataracts in the first decades of life are often an initial symptom of CTX. Tendinous xanthomas (fatty tumors) may appear in the second or third decade and can be located on the Achilles tendon, extensor tendons of the elbows and hands, and the knees.

Most affected individuals experience a decline in mental function beginning at puberty, but some show impairment beginning in childhood. Cognitive impairment can be mild to severe. CTX is often diagnosed through neurological symptoms of the disease that will continue to get worse without treatment. Seizures and epilepsy have been reported as symptoms. Psychiatric abnormalities including behavioral changes, hallucinations, agitation, aggression, depression, and suicidal tendencies can also occur, although specific expression varies greatly. Increased muscle tone and stiffness (spasticity) can occur.

In some patients, additional neurologic findings may occur including impaired coordination of voluntary movements due to underdevelopment (hypoplasia) of the brain’s cerebellum (cerebellar ataxia); symptoms that resemble Parkinson disease (atypical parkinsonism); and dystonia, which is a general term for a large group of movement disorders that vary in their symptoms, causes, progression, and treatments. Dystonia is generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures).

Cardiovascular disease has been reported in individuals with CTX, although the exact prevalence of this finding is unknown. Hardening of the arteries (atherosclerosis) and coronary heart disease may occur. Additional symptoms that have been reported include underactivity of the thyroid (hypothyroidism) and skeletal abnormalities such as porous, brittle bones (osteoporosis) and a higher incidence of bone fractures.

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CTX is caused by a disease-causing (pathogenic) variant in the CYP27A1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a pathogenic variant of a gene occurs, the protein product or enzyme may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain. In CTX, the gene variant is inherited in an autosomal recessive manner.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

Disease-causing variants in the CYP27A1 gene result in deficiency of the mitochondrial enzyme sterol 27-hydroxylase. The lack of this enzyme prevents cholesterol from being converted into the bile acid chenodeoxycholic acid. The block in synthesis of this bile acid causes accumulation of bile acid pathway intermediates and cholestanol in blood and tissues of affected individuals. Cholestanol deposits can accumulate in nerve cells and membranes and cause damage to the brain, spinal cord, tendons, lens of the eye and arteries.

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Affected populations

Recent estimates place CTX incidence ranging from 1:134,970 to 1:461,358 in Europeans, 1:263,222 to 1:468,624 in Africans, 1:71,677 to 1:148,914 in Americans, 1:64,267 to 1:64,712 in East Asians and 1:36,072 to 1:75,601 in South Asians.. Despite this, only around three hundred affected individual of CTX have been described worldwide. This suggests many cases may go undiagnosed or are misdiagnosed. Affected individuals have been reported in the USA, Israel, Italy, Japan, the Netherlands, Belgium, Brazil, Canada, France, Iran, Norway, Tunisia, Spain, China and Sweden. Populations with a higher prevalence of CTX exist, for example in an isolated Israeli Druze community a carrier frequency of 1:11 for the deleterious c.355delC variant was determined, leading to an estimated prevalence of CTX at 1:440 individuals.

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Disorders with Similar Symptoms

Symptoms of the following disorders can be similar to those of CTX. Comparisons may be useful for a differential diagnosis.

Sitosterolemia is a rare autosomal recessive genetic condition caused by an abnormality in the ABCG8 gene or the ABCG5 gene, resulting in an accumulation of cholesterol and other types of lipids called sterols in body tissues. Symptoms include clusters of fatty tumors in the skin of joints (tuberous xanthomas), on the tendons (tendon xanthomas), plaque deposits in the arteries (atherosclerosis), and coronary artery disease. Joint stiffness and pain can develop. In some cases affected individuals may have low levels of circulating red blood cells due to the premature destruction of red blood cells (hemolytic anemia). (For more information on this disorder, choose “sitosterolemia” as your search term in the Rare Disease Database.)

Familial hypercholesterolemia (FH) is characterized by very high levels of total and low-density lipoprotein (LDL) cholesterol, often called the “bad” cholesterol. The levels of another blood lipid, triglycerides, are usually normal and the levels of high-density lipoprotein (HDL) cholesterol (the “good” cholesterol) are typically low or normal. The condition greatly increases the risk of atherosclerosis (hardening of the arteries), which causes heart attacks, strokes and other serious vascular conditions. Untreated men with FH often develop symptoms of coronary heart disease (CHD) in their early forties and women, in their early fifties. If one or more other major risk factors for CHD are present, especially cigarette smoking and diabetes mellitus, the risk of developing symptomatic CHD is greatly increased. Women without other major risk factors for CHD may survive to old age without developing symptomatic disease. Additional symptoms include the formation of fatty tumors of the tendons (tendinous xanthomas), cholesterol deposits on the eyelids (xanthelasmas), and a curved appearance of the corneas of the eyes (corneal arcus). (For more information on this disorder, choose “hypercholesterolemia” as your search term in the Rare Disease Database.)

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CTX is diagnosed based on a thorough clinical evaluation, a detailed patient and family history, identification of characteristic clinical findings, and specialized tests including genetic testing and biochemical tests on blood and urine.

Genetic testing can confirm a diagnosis of CTX by detecting disease-causing (pathogenic) variants in the CYP27A1 gene known to cause the disorder. This type of testing can confirm the presence of gene variants that have already been described in the literature to cause CTX. Sometimes novel (unknown) variants are uncovered by genetic testing and in these cases biochemical testing is helpful to confirm the biochemical defect is present.

Certain specialized laboratories can conduct analysis to detect biochemical features that are indicative of CTX. Due to the nature of the biochemical defect, the cholestanol concentration in plasma or serum (derived from blood) is high, while the plasma cholesterol concentration is normal to low. In addition, the concentration of bile acid pathway intermediates is elevated, and the concentration of bile alcohols in plasma, bile and urine is increased. Bile alcohols are formed in an alternative pathway present in CTX that generates some cholic acid. Due to the nature of the biochemical defect in CTX there is little or no formation of chenodeoxycholic acid.

CTX has been nominated as a candidate disorder to add the recommended uniform screening panel of disorders (the RUSP) to screen for in newborns. Researchers have developed testing for CTX to identify dried bloodspots from newborns with the disorder and large prospective pilot studies are underway to confirm that the testing is able to identify newborns with CTX.

In some cases, specialized imaging techniques may include computerized tomography (CT) scanning of the head and magnetic resonance imaging (MRI) of the brain may assist in assessing disease progression in individuals suspected of CTX. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues. These tests may show cerebellar lesions and white matter damage in individuals with CTX.

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Standard Therapies

Because oral bile acid replacement therapy can halt disease progression or prevent symptoms from occurring in asymptomatic individuals, early diagnosis and treatment of CTX is extremely important to prevent disease complications. Researchers have recently shown that CTX patients who started treatment later (after the age of 25 years) had a worse outcome and were significantly more limited in ambulation and more cognitively impaired than those that started treatment earlier (before the age of 25 years).

Successful long-term treatment of a number of affected individuals who were asymptomatic in childhood has been reported in the literature.

Treatment with chenodeoxycholic acid normalizes the production of cholestanol. The efficacy of treatment with chenodeoxycholic acid can be monitored using biochemical testing to confirm a decrease in blood cholestanol. Treatment can prevent symptoms in asymptomatic individuals and stop the progression of disease symptoms in affected individuals. After significant disease progression, treatment does not readily reverse the neurological deficits that have already occurred.

It may be effective to give a drug that inhibits HMG-CoA reductase (an enzyme that plays a role in the creation of cholesterol in the liver) in conjunction with chenodeoxycholic acid. There are concerns that treatment with HMG-CoA reductase inhibitors (better known as statins) could boost the activity of receptors for low-density lipoprotein (LDL) cholesterol, thereby increasing cholesterol uptake and potentially worsening CTX. HMG-CoA reductase inhibitors can also cause muscle damage.

In 2009, the U.S. Food and Drug Administration (FDA) re-approved an artificially made (synthetic) form of chenodeoxycholic acid known as Chenodal as a treatment for gallstones. This drug is also used as a first-line therapy to treat individuals with CTX. Chenodal received an orphan drug designation from the FDA for the treatment of CTX in the U.S.

Cholic acid, another bile acid, has also been used to treat young children with CTX. Although chenodeoxycholic acid is considered as a first-line therapy to treat CTX, cholic acid lacks the potential toxic effects on the liver (hepatotoxicity) sometimes associated with chenodeoxycholic acid.

Additional treatment is symptomatic and supportive. For example, cataract surgery may be necessary before 50 years of age.

Genetic counseling is recommended for affected families and individuals

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Clinical Trials and Studies

Currently there are clinical trials being conducted for CTX. Information on new clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

Some current clinical trials also are posted on the following page on the NORD website:

For information about clinical trials sponsored by private sources, contact:

For information about clinical trials conducted in Europe, contact:

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Cerebrotendinous Xanthomatosis (CTX) Premium Copay Assistance

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Related Rare Diseases: Cerebrotendinous Xanthomatosis, Leukodystrophy

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Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

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Patient Organizations

United Leukodystrophy Foundation

NORD Member

Email: office@ulf.org

Related Rare Diseases: Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia, Cerebral Folate Deficiency, Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation, ...


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Metabolic Support UK

Email: contact@metabolicsupportuk.org

Related Rare Diseases: Glucose-Galactose Malabsorption, Sandhoff Disease, Aromatic L-Amino Acid Decarboxylase Deficiency, ...


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NIH/National Institute of Neurological Disorders and Stroke

Phone: 301-496-5751 Fax: 301-402-2186

Related Rare Diseases: MOG Antibody Disease, Aromatic L-Amino Acid Decarboxylase Deficiency, Miller Fisher Syndrome, ...


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Hunter’s Hope Foundation, Inc.

Email: info@huntershope.org

Related Rare Diseases: Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation, Cerebrotendinous Xanthomatosis, Leukodystrophy, ...


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Leukodystrophy Australia

Email: mail@alds.org.au

Related Rare Diseases: Cerebrotendinous Xanthomatosis, Leukodystrophy, Metachromatic Leukodystrophy, ...


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