This website translates English to other languages using an automated tool. We cannot guarantee the accuracy of the translated text. Cerebrotendinous xanthomatosis CTX is a rare condition that affects the body's ability to metabolize fats known as cholesterols. Patients with CTX are unable to break down different forms of cholesterol, which build up in certain areas of the body. CTX is characterized by fatty yellow nodules xanthomas located in the connective tissues within the brain. These deposits can cause progressive damage to the brain and other areas of the body.
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This website translates English to other languages using an automated tool. We cannot guarantee the accuracy of the translated text. Cerebrotendinous xanthomatosis CTX is a rare condition that affects the body's ability to metabolize fats known as cholesterols.
Patients with CTX are unable to break down different forms of cholesterol, which build up in certain areas of the body. CTX is characterized by fatty yellow nodules xanthomas located in the connective tissues within the brain. These deposits can cause progressive damage to the brain and other areas of the body.
Patients with CTX do not have elevated levels of cholesterol in their blood; however, they do have elevated levels in their tissues. When a patient with CTX enters into adulthood, they may begin to notice the following neurological symptoms:. The fatty deposits can also result in cardiovascular disease or stroke if they limit or block the blood flow to the heart or brain.
Cerebrotendinous xanthomatosis is caused by a change in the CYP27A1 gene, which is involved in the production of an enzyme that breaks down cholesterol. The condition is inherited, and both parents need to pass on the genetic abnormality in order for their child to have the condition. If the child only receives one copy of the abnormal gene then they are a carrier for CTX but will not have any symptoms. The condition is rare and occurs in an estimated 3 to 5 out of every , people.
The condition affects all genders and ethnicities; however, it is most common in the Moroccan Jewish population. Diagnosis of CTX usually begins with a physical exam and a review of the patient's medical history and symptoms.
During childhood, the condition can be diagnosed through urine analysis. In adults, a positive diagnosis of CTX is based on identifying at least two of the five main symptoms, including:. Imaging tests, such as magnetic resonance imaging MRI , computed tomography CT or a cerebrovascular evaluation can help the medical team better understand what is going on inside the body.
An MRI or CT scan can be used to look for areas of the brain that resemble stroke conditions and can help the medical team determine if neurological damage has occurred. A cerebrovascular evaluation will look at the affected blood vessels and may include an angiography.
Because the fatty deposits can cause cardiovascular disease, evaluation of the patient's cardiovascular health may also be conducted. A cardiovascular evaluation will look at the heart and blood vessels and may include additional imaging tests such as an echocardiography or angiography.
There is no cure for CTX, however, if the condition is treated early, its progression can be slowed or stopped. The first treatment generally prescribed is chenodeoxycholic acid CDCA replacement therapy, which works to normalize the body's ability to break down cholesterol. Other medications, known as HMG-CoA reductase inhibitors, may be prescribed to help lower cholesterol levels by blocking the enzyme responsible for the production of cholesterol.
For patients who have experienced a stroke, the Stroke Program at Cedars-Sinai provides a multidisciplinary treatment approach through a personalized treatment plan tailored to each patient. Patient care is generally broken down into three categories: stroke prevention, treatment immediately after a stroke, and post-stroke rehabilitation. All Rights Reserved. A c 3 non-profit organization. The translations may include errors or change the intended meaning of the text. Please consult your healthcare provider about any medical information.
Translations may not be available for some items, including PDF documents, maps, video captions, and text that appears on photos. Also, some features on the website may not work in the translated versions. Translated from English by This website translates English to other languages using an automated tool. Cerebrotendinous Xanthomatosis CTX. Symptoms of CTX vary depending on the age of the patient, and the severity of the condition. Causes and Risk Factors Cerebrotendinous xanthomatosis is caused by a change in the CYP27A1 gene, which is involved in the production of an enzyme that breaks down cholesterol.
In adults, a positive diagnosis of CTX is based on identifying at least two of the five main symptoms, including: Persistent diarrhea Cataracts at a young age Fatty deposits in the tendons Neurological abnormalities Abnormal amounts of cholesterol in the tendons of the body.
In CTX patients, cataract surgery also is often required by the age of Contribute Giving Give Now Volunteer. International International Patients. Join Our Team Careers. Translated from English by. Don't Show Again.
Cerebrotendinous Xanthomatosis (CTX)
Cerebrotendinous Xanthomatosis CTX is a rare and presumably underdiagnosed, autosomal recessive, metabolic storage disorder. CTX is caused by caused by mutations in the CYP27A1 gene, which encodes for a sterol hydroxylase enzyme important in bile acid synthesis. At least 50 pathogenic mutations have been found in the CYP27A1 gene. Sterol hydroxylase deficiency leads to 5-alpha-cholestanol accumulation in the blood and tissues of affected patients; this includes the brain, connective tissue, and the crystalline lens.
Cerebrotendineous xanthomatosis also called cerebral cholesterosis ,  is an autosomal recessive form of xanthomatosis. An inherited disorder associated with the deposition of a steroid known as 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. 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. Elevated levels of serum cholestanol are diagnostic of CTX. Alternatively analysis of hydroxycholesterol and 7 alpha hydroxycholesterol can be used.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. 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. More than patients have been reported worldwide. The initial clinical manifestation may be neonatal cholestasis or chronic diarrhea from infancy.