Introduction To Leukodystrophy cerebrotendinous xanthomatosis (CTX). cerebrotendinous xanthomatosispresents with cataract, tendon xanthomas (yellowish deposits http://www.ulf.org/ulf/intro/
Extractions: 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.
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
Extractions: needs and parents with special needs children. 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.
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
Extractions: 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.
Introduction To Leukodystrophy Symptoms presented with this disease, the diagnosis and the treatment. http://www.ulf.org/ulf/intro/#Inf6
Extractions: 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.
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
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
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
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
Extractions: 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.
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
Extractions: 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.
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
Extractions: 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.
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
Extractions: 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.
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
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
Extractions: 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.
