Cerebrotendinous xanthomatosis

Información en español Title

Other Names:

CTX; Cerebral cholesterinosis; Sterol 27-hydroxylase deficiency

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Eye diseases; Metabolic disorders; Nervous System Diseases; RDCRN; Skin Diseases See More

This disease is grouped under:

Leukodystrophy

Summary Summary

Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body (lipid storage disease).^[1] People with this disorder cannot break down certain lipids effectively (such as cholesterol), so these fats form fatty yellow nodules called xanthomas, that accumulate in the body, especially in the brain and the tendons that attach muscle to bone, which is reflected in the condition name (cerebro- meaning brain and -tendinous referring to tendons). Symptoms may include diarrhea, clouding of the lens of the eyes (cataracts), tendon problems and progressive neurologic problems, such as epilepsy, movement disorders, impaired speech (dysarthria), loss of sensation in the arms and legs (peripheral neuropathy), dementia, hallucinations, and depression. Other symptoms may include brittle bones that are prone to fracture (osteoporosis) and an increased risk of developing heart or lung failure because of lipid buildup.^[2]^[1] It is caused by mutations in the CYP27A1 gene. Treatment may involve chenodeoxycholic acid (CDCA), inhibitors of HMG-CoA reductase, coenzyme Q₁₀ and surgery to remove cataracts.^[1]

Last updated: 8/23/2017

Symptoms Symptoms

The symptoms seen in cerebrotendinous xanthomatosis are listed below. We have also included the typical age when each symptom appears.^[1]

Chronic diarrhea (infancy)
Cataracts (early childhood)
Mental impairment (infancy or at puberty)
Xanthomas (adolescents to early adulthood)
Dementia with slow deterioration in intellectual abilities (early adulthood)
Spasticity (early adulthood)
Cerebellar signs such as intention tremor, difficulty with fast hand movements, nystagmus, truncal ataxia, and rhomberg's sign) (early adulthood)
Behavioral changes (early adulthood)
Hallucinations (early adulthood)
Agitation (early adulthood)
Aggression (early adulthood)
Depression (early adulthood)
Suicide attempt (early adulthood)

Other symptoms may include dystonia, atypical parkinsonism, seizures, and peripheral neuropathy.

Last updated: 8/23/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 49 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality of vision	Abnormality of sight Vision issue [ more ]	0000504
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Myoclonus		0001336
Xanthelasma	Fatty deposits in skin around the eyes Fatty deposits on eyelids [ more ]	0001114
30%-79% of people have these symptoms
Abnormal pyramidal sign		0007256
Abnormality of extrapyramidal motor function		0002071
Abnormality of the periventricular white matter		0002518
Angina pectoris		0001681
Atherosclerosis	Narrowing and hardening of arteries	0002621
Depressivity	Depression	0000716
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Dystonia		0001332
Hallucinations	Hallucination Sensory hallucination [ more ]	0000738
Hypercholesterolemia	Elevated serum cholesterol Elevated total cholesterol Increased total cholesterol [ more ]	0003124
Hyperreflexia	Increased reflexes	0001347
Muscle weakness	Muscular weakness	0001324
Myocardial infarction	Heart attack	0001658
Neurological speech impairment	Speech disorder Speech impairment Speech impediment [ more ]	0002167
Peripheral neuropathy		0009830
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Tremor	Tremors	0001337
5%-29% of people have these symptoms
Cerebral calcification	Abnormal deposits of calcium in the brain	0002514
Cholestasis	Slowed or blocked flow of bile from liver	0001396
Diarrhea	Watery stool	0002014
EEG abnormality		0002353
Joint dislocation	Joint dislocations Recurrent joint dislocations [ more ]	0001373
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Malabsorption	Intestinal malabsorption	0002024
Nephrolithiasis	Kidney stones	0000787
Seizures	Seizure	0001250
Percent of people who have these symptoms is not available through HPO
Abnormal circulating cholesterol concentration	Abnormality of cholesterol metabolism	0003107
Abnormality of central somatosensory evoked potentials		0100291
Abnormality of the dentate nucleus		0100321
Ataxia		0001251
Autosomal recessive inheritance		0000007
Cerebellar atrophy	Degeneration of cerebellum	0001272
Cerebral atrophy	Degeneration of cerebrum	0002059
Cholelithiasis	Gallstones	0001081
Delusions		0000746
Dementia	Dementia, progressive Progressive dementia [ more ]	0000726
EEG with generalized slow activity		0010845
EMG: axonal abnormality		0003482
Optic disc pallor		0000543
Osteoporosis		0000939
Pseudobulbar paralysis		0007024
Respiratory insufficiency	Respiratory impairment	0002093
Tendon xanthomatosis		0010874
Tuberous xanthoma		0031290

Showing of 49 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/1/2019

Do you have updated information on this disease? We want to hear from you.

Cause Cause

Cerebrotendinous xanthomatosis is caused by mutations in the CYP27A1 gene.^[1]

Last updated: 8/23/2017

Inheritance Inheritance

Cerebrotendinous xanthomatosis is inherited in an autosomal recessive pattern.^[2]

Last updated: 8/24/2017

Diagnosis Diagnosis

Yes, testing of the CYP27A1 gene is available. The Genetic Testing Registry provides information on clinical and research tests available for this condition.

Last updated: 9/12/2013

Cerebrotendinous xanthomatosis is diagnosed by a combination of clinical features, cholestanol levels, and genetic testing. People with cerebrotendinous xanthomatosis have high levels of cholestanol in their blood. Genetic testing of the CYP27A1 gene is also available and can detect mutations in about 98% of patients.^[1]

Last updated: 8/23/2017

Treatment Treatment

Cerebrotendinous xanthomatosis may be treated with chenodeoxycholic acid (CDCA), which has been shown to normalize levels of cholestonal and improve neurologic symptoms. Inhibitors of HMG-CoA reductase may be used alone or in combination with CDCA. They are also effective in decreasing cholestanol concentration and improving clinical symptoms, however these treatments can lead to muscle damage. Coenzyme Q10 may improve muscle weakness, and cataract surgery may also be required.^[1]

Last updated: 8/23/2017

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

American Dietetic Association
120 South Riverside Plaza, Suite 2000
Chicago, IL 60606-6995
Toll-free: 800-366-1655
E-mail: knowledge@eatright.org
Website: http://www.eatright.org/Public/

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other causes of xanthomata such as sitosterolemia and hyperlipemia (especially type IIa, also known as familial hypercholesterolemia [see these terms]), and for infants presenting with cholestasis, all other causes of neonatal cholestasis. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Cerebrotendinous xanthomatosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

The Sterol and Isoprenoid Diseases Consortium (STAIR) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Steroid and Isoprenoid Research Consortium (STAIR) has a registry for patients who wish to be contacted about clinical research opportunities.

For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org
United Leukodystrophy Foundation (ULF)
224 North Second Street
Suite 2
DeKalb, IL 60115
Toll-free: 800-728-5483
Telephone: 815-748-3211
Fax: 815-748-0844
E-mail: office@ulf.org
Website: http://www.ulf.org/

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

National Organization for Rare Disorders (NORD) has Disease-Specific Assistance Programs designed to help patients with out-of-pocket costs such as monthly insurance premiums or deductibles. In addition, some programs may provide financial assistance for additional expenses related to a patient's diagnosis such as travel to see a specialist.
The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Cerebrotendinous xanthomatosis. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Cerebrotendinous xanthomatosis. Click on the link to view a sample search on this topic.

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