1. Introduction To Leukodystrophy cerebrotendinous xanthomatosis (CTX). cerebrotendinous xanthomatosispresents with cataract, tendon xanthomas (yellowish deposits http://www.ulf.org/ulf/intro/

U NITED L EUKODYSTROPHY F OUNDATION 2304 Highland Drive * Sycamore, Illinois USA 60178 * Phone: (800) 728-5483 * FAX: (815) 895-2432 Introduction to Leukodystrophy Outlined below are brief introductions to the leukodystrophies. Further extensive in-depth research information is available on these subjects and more through the ULF library of printed and videotape materials. When requesting further information please let us know whether you are a professional or lay-person so that we can respond with the appropriate information level. Introduction Patterns of Inheritance Adrenoleukodystrophy (ALD)/Adrenomyeloneuropathy (AMN) Aicardi-Goutieres Syndrome ... Zellweger Syndrome INTRODUCTION The leukodystrophies are genetically determined progressive disorders that affect the brain, spinal cord and peripheral nerves. The term leukodystrophy derives from the Greek words "leuko" meaning white and referring to the white matter of the nervous system and "dystrophy" meaning imperfect growth or development. White matter is white to the naked eye because it contains a complex chemical substance called the myelin sheath. Myelin contains a variety of fatty substances or lipids. Its function is to insulate the axon through which nerve impulses are conducted, much as does insulation around an electric wire; the axon being the biological equivalent of the wire. The myelin sheath is a very complex substance. It is made up of at least ten, and probably more distinct chemicals. Each of the leukodystrophies affects one (and only one) of these substances that all affect the myelin sheath in some way, but otherwise, they are totally separate. Leukodystrophy of one type, does not in any way predispose to, or increase the risk of another type of leukodystrophy.

2. CEREBROTENDINOUS XANTHOMATOSIS (CTX) Features Listed For cerebrotendinous xanthomatosis (CTX). McKusick 213700. Absent/abnormalgallbladder; Ataxia; Cataract; Cerebellar abnormalities (structural); http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?384

3. EPEC - Educating Parents Of Extra-special Children - Cerebrotendinous Xanthomato needs and parents with special needs children. cerebrotendinous xanthomatosis (CTX) a specific finding in the diagnosis of cerebrotendinous xanthomatosis. Most often found in the http://www.epeconline.com/CerebrotendinousXanthomatosis.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Cerebrotendinous Xanthomatosis (CTX) Xanthomas is a term describing the presence of yellowish fatty tumours on the tendons, which is a specific finding in the diagnosis of Cerebrotendinous Xanthomatosis. Most often found in the Achilles tendon, this revealing attribute tends to be missed unless specifically looked for. Patients with CTX may present first with cataracts or with mild mental retardation. Later on, patients may develop seizures, emotional or psychiatric disturbances, and motor deficits. CTX has an autosomal recessive pattern of inheritance. CTX is usually diagnosed by measuring the levels of bile alcohols in blood or urine, or of a substance called cholestanol in the blood. Cholestanol resembles cholesterol chemically, but can be distinguished from it by special chemical tests. The biochemical basis of CTX is complex, but advances are beginning to be made toward understanding it. Diagnosis of the illness is important, since it is by far the most treatable of the leukodystrophies. Much encouragment has been gained through the observation that certain bile acids, administered orally, can prevent further progression of the illness, and may even bring about improvement.

4. 1445: Fine-mapping And Mutational Analyses Of Cerebrotendinous Xanthomatosis In Program Nr 1445. Finemapping and mutational analyses of cerebrotendinous xanthomatosis in US pedigrees.M.H. Lee1, S. Yi1, J.D. Carpten2, J. Cohen3, G. Salen4, G.T. Gerhardt5, S. cerebrotendinous xanthomatosis (CTX) is a rare Autosomal Recessive disorder of bile acid http://www.faseb.org/genetics/ashg99/f1445.htm

Program Nr: 1445 Fine-mapping and mutational analyses of cerebrotendinous xanthomatosis in US pedigrees. M.H. Lee , S. Yi , J.D. Carpten , J. Cohen , G. Salen , G.T. Gerhardt , S. Patel 1) Medicine, Medical University of SC, Charleston, SC; 2) Prostate-Cancer Investigation Group Laboratory of Cancer Genetics, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; 3) University of Texas Southwestern Medical Center, Dallas, TX; 4) University Medical and Dental New Jersey, VA Hospital, East Orange, NJ; 5) Oregon Health Sciences University Department of Medicine, Portland , OR.

5. Introduction To Leukodystrophy Symptoms presented with this disease, the diagnosis and the treatment. http://www.ulf.org/ulf/intro/#Inf6

U NITED L EUKODYSTROPHY F OUNDATION 2304 Highland Drive * Sycamore, Illinois USA 60178 * Phone: (800) 728-5483 * FAX: (815) 895-2432 Introduction to Leukodystrophy Outlined below are brief introductions to the leukodystrophies. Further extensive in-depth research information is available on these subjects and more through the ULF library of printed and videotape materials. When requesting further information please let us know whether you are a professional or lay-person so that we can respond with the appropriate information level. Introduction Patterns of Inheritance Adrenoleukodystrophy (ALD)/Adrenomyeloneuropathy (AMN) Aicardi-Goutieres Syndrome ... Zellweger Syndrome INTRODUCTION The leukodystrophies are genetically determined progressive disorders that affect the brain, spinal cord and peripheral nerves. The term leukodystrophy derives from the Greek words "leuko" meaning white and referring to the white matter of the nervous system and "dystrophy" meaning imperfect growth or development. White matter is white to the naked eye because it contains a complex chemical substance called the myelin sheath. Myelin contains a variety of fatty substances or lipids. Its function is to insulate the axon through which nerve impulses are conducted, much as does insulation around an electric wire; the axon being the biological equivalent of the wire. The myelin sheath is a very complex substance. It is made up of at least ten, and probably more distinct chemicals. Each of the leukodystrophies affects one (and only one) of these substances that all affect the myelin sheath in some way, but otherwise, they are totally separate. Leukodystrophy of one type, does not in any way predispose to, or increase the risk of another type of leukodystrophy.

6. Cerebrotendinous Xanthomatosis - Information / Diagnosis / Treatment / Preventio home nutrition and metabolism disorders cholesterol and other fats cerebrotendinous xanthomatosis cerebrotendinous xanthomatosis. http://www.healthcyclopedia.com/nutrition-and-metabolism-disorders/cholesterol-a

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... cholesterol and other fats > cerebrotendinous xanthomatosis Cerebrotendinous Xanthomatosis Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Musculoskeletal Disorders/Connective Tissue Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "cerebrotendinous xanthomatosis" Health News: Search millions of published articles for news on Cerebrotendinous Xanthomatosis Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Cerebrotendinous Xanthomatosis: CTX Symptoms presented with this disease, the diagnosis and the treatment. Notes: Healthcyclopedia presents health information in the form of websites and articles that encompass conventional medicine and alternative treatments Under no circumstances can it recommend or endorse a specific drug or therapy or treatment.

7. GeneReviews: Cerebrotendinous Xanthomatosis http://www.genetests.org/query?dz=ctx

8. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Skin and Connective Tissue Diseases Xanthomatosis, Cerebrotendinous. Include and Chenodeoxycholic Acid for cerebrotendinous xanthomatosis. Condition cerebrotendinous xanthomatosis http://clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/hier/BC1

9. OMIM - CEREBROTENDINOUS XANTHOMATOSIS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=213700

10. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Diseases and Abnormalities at or before Birth Xanthomatosis, Cerebrotendinous Chenodeoxycholic Acid for cerebrotendinous xanthomatosis. Condition cerebrotendinous xanthomatosis http://clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/hier/BC1

11. Cerebrotendinous Xanthomatosis Without Tendon Xanthomas Mimicking cerebrotendinous xanthomatosis without tendon xanthomas mimickingMarinescoSjoegren syndrome a case report. Siebner HR, Berndt http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=DocSum

12. NEJM -- Long-term Treatment Of Cerebrotendinous Xanthomatosis With Chenodeoxycho Original Article from The New England Journal of Medicine Longterm treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid acid in 17 patients with cerebrotendinous xanthomatosis. Before treatment, all subjects and arrest and possibly reverse the progression of cerebrotendinous xanthomatosis http://www.nejm.org/cgi/content/abstract/311/26/1649

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Volume 311:1649-1652 December 27, 1984 Number 26 Next Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid VM Berginer, G Salen, and S Shefer Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract This article has been cited by other articles: Castelnovo, G, Jomir, L, Bouly, S (2003). Cerebrotendinous xanthomatosis. J. Neurol. Neurosurg. Psychiatry [Full Text] Inglese, M., DeStefano, N., Pagani, E., Dotti, M. T., Comi, G., Federico, A., Filippi, M. (2003). Quantification of Brain Damage in Cerebrotendinous Xanthomatosis with Magnetization Transfer MR Imaging. AJNR Am J Neuroradiol [Abstract] [Full Text] Verrips, A., van Engelen, B. G. M., Wevers, R. A., van Geel, B. M., Cruysberg, J. R. M., van den Heuvel, L. P. W. J., Keyser, A., Gabreels, F. J. M. (2000). Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis. Arch Neurol [Abstract] [Full Text] Moghadasian, M. H., Salen, G., Frohlich, J. J., Scudamore, C. H. (2002). Cerebrotendinous Xanthomatosis: A Rare Disease With Diverse Manifestations.

13. Cerebrotendinous Xanthomatosis Browse entry words starting with A, B, C, D, E, F, G, H, I, J, K, L, M, N, O,P, Q, R, S, T, U, V, W, X, Y, Z, Other characters, cerebrotendinous xanthomatosis,.Print this article, http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/CEREBROTENDINO

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Cerebrotendinous xanthomatosis, a rare autosomal recessive disorder characterized by the presence of xanthomas, cataracts, dementia and progressive cerebellar ataxia. In this disorder, crystals of cholesterol accumulate in the white matter of the brain and in xanthomas. The tendinous xanthomas occur most frequently in the Achilles tendon, triceps tendon and extensor tendons of the fingers. Joint hypermobility, osteoporosis, fractures and pes cavus deformity may also be seen in some patients. DR The Encyclopaedia of Medical Imaging Volume III:1 Contacts GE Healthcare Making Waves

14. Cerebrotendinous Xanthomatosis More results from www.amershamhealth.com GeneReviews cerebrotendinous xanthomatosisYour browser does not support HTML frames so you must view cerebrotendinous xanthomatosisin a slightly less readable form. Please follow this link to do so. http://www.amershamhealth.com/medcyclopaedia/Volume III 1/CEREBROTENDINOUS XANTH

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Cerebrotendinous xanthomatosis, a rare autosomal recessive disorder characterized by the presence of xanthomas, cataracts, dementia and progressive cerebellar ataxia. In this disorder, crystals of cholesterol accumulate in the white matter of the brain and in xanthomas. The tendinous xanthomas occur most frequently in the Achilles tendon, triceps tendon and extensor tendons of the fingers. Joint hypermobility, osteoporosis, fractures and pes cavus deformity may also be seen in some patients. DR The Encyclopaedia of Medical Imaging Volume III:1 Contacts GE Healthcare Making Waves

15. Cerebrotendinous Xanthomatosis - Information / Diagnosis / Treatment / Preventio Health All Topics. by Category. Health. Conditions. AZ. Gurus. Links. home nutrition and metabolism disorders cholesterol and other fats cerebrotendinous xanthomatosis. cerebrotendinous xanthomatosis published articles for news on cerebrotendinous xanthomatosis. The eLibrary newspaper and http://www.healthcyclopedia.com/cerebrotendinous_xanthomatosis.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... cholesterol and other fats > cerebrotendinous xanthomatosis Cerebrotendinous Xanthomatosis Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Musculoskeletal Disorders/Connective Tissue Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "cerebrotendinous xanthomatosis" Health News: Search millions of published articles for news on Cerebrotendinous Xanthomatosis Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Cerebrotendinous Xanthomatosis: CTX Symptoms presented with this disease, the diagnosis and the treatment. Notes: Healthcyclopedia presents health information in the form of websites and articles that encompass conventional medicine and alternative treatments Under no circumstances can it recommend or endorse a specific drug or therapy or treatment.

16. Disease Directory : Nutrition And Metabolism Disorders : Cholesterol And Other F A Case of cerebrotendinous xanthomatosis A case study 26-year-old female developedmental deterioration, general convulsion, cataract and spastic gait in http://www.diseasedirectory.net/Nutrition_and_Metabolism_Disorders/Cholesterol_a

Wednesday, June 02, 2004 Nutrition and Metabolism Disorders Cholesterol and Other Fats Cerebrotendinous Xanthomatosis Fabry's ... Cholesterol and Other Fats : Cerebrotendinous Xanthomatosis A Case of Cerebrotendinous Xanthomatosis - A case study 26-year-old female developed mental deterioration, general convulsion, cataract and spastic gait in order since her entrance into elementary school. Cerebrotendinous Xanthomatosis: CTX - Symptoms presented with this disease, the diagnosis and the treatment. Edema and Water Retention - A discussion about water and its retention in our bodies, the causes and factors affecting this, such as the foods we eat and disease.

17. DOE Document - Abnormal High Density Lipoproteins In Cerebrotendinous The plasma lipoprotein profiles and high density lipoproteins (HDL) were characterized in patients with the genetic disease cerebrotendinous xanthomatosis (CTX).^ The mean HDLcholesterol http://rdre1.inktomi.com/click?u=http://www.osti.gov/energycitations/product.bib

18. Disease Directory : Cerebrotendinous Xanthomatosis: CTX Symptoms presented with this disease, the diagnosis and the treatment....... Directory Listing. Title cerebrotendinous xanthomatosis CTX http://www.diseasedirectory.net/detailed/7205.aspx

Wednesday, June 02, 2004 Nutrition and Metabolism Disorders Cholesterol and Other Fats Cerebrotendinous Xanthomatosis Fabry's ... Cerebrotendinous Xanthomatosis : Cerebrotendinous Xanthomatosis: CTX Directory Listing Title: Cerebrotendinous Xanthomatosis: CTX Description: Symptoms presented with this disease, the diagnosis and the treatment. Date Added: 2/4/2004 1:24:23 PM URL: http://www.ulf.org/ulf/intro/#Inf6

19. Nutrition And Metabolism Disorders, Cholesterol And Other Fats, Cerebrotendinous Nutrition and Metabolism Disorders, Cholesterol and Other Fats, CerebrotendinousXanthomatosis. Sponsored cerebrotendinous xanthomatosis Sites. http://www.iseekhealth.com/cerebrotendinous_xanthomatosis-2161.php

Home About Us Contact Submit Your Site Search : Home Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cerebrotendinous Xanthomatosis More Cerebrotendinous Xanthomatosis Categories: Submit Your Site to the Cerebrotendinous Xanthomatosis category Sponsored Cerebrotendinous Xanthomatosis Sites Do You Have High Cholesterol? One in five people has high cholesterol. Find out what you can do to control it. All-Natural Cholesterol Reduction Blend Proprietary herbal formula lowers high serum cholesterol, improves circulation and prevents cholesterol build-up on arterial walls. Guaranteed results. Secure ordering. Cholesterol Tests, Cholesterol and Your Health Cholesterol and lipid testing information for the physician/laboratorian and for the patient community. Patients - learn more about controlling and monitoring your cholesterol levels. Cholesterol: MedicaPharma.com Sells famous FDA approved brand name and generic medications with or without prescription, high quality, low prices, secure ordering, free shipping. Buy Medications From Canada and Save!!

20. NEJM -- Long-term Treatment Of Cerebrotendinous Xanthomatosis With Chenodeoxycho Original Article from The New England Journal of Medicine Longterm treatmentof cerebrotendinous xanthomatosis with chenodeoxycholic acid. http://content.nejm.org/cgi/content/abstract/311/26/1649

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Volume 311:1649-1652 December 27, 1984 Number 26 Next Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid VM Berginer, G Salen, and S Shefer Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract This article has been cited by other articles: Castelnovo, G, Jomir, L, Bouly, S (2003). Cerebrotendinous xanthomatosis. J. Neurol. Neurosurg. Psychiatry [Full Text] Inglese, M., DeStefano, N., Pagani, E., Dotti, M. T., Comi, G., Federico, A., Filippi, M. (2003). Quantification of Brain Damage in Cerebrotendinous Xanthomatosis with Magnetization Transfer MR Imaging. AJNR Am J Neuroradiol [Abstract] [Full Text] Verrips, A., van Engelen, B. G. M., Wevers, R. A., van Geel, B. M., Cruysberg, J. R. M., van den Heuvel, L. P. W. J., Keyser, A., Gabreels, F. J. M. (2000). Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis. Arch Neurol [Abstract] [Full Text] Moghadasian, M. H., Salen, G., Frohlich, J. J., Scudamore, C. H. (2002). Cerebrotendinous Xanthomatosis: A Rare Disease With Diverse Manifestations.

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