Introduction To Leukodystrophy Symptoms presented with this disease, the diagnosis and the treatment. http://www.ulf.org/ulf/intro/#Inf6
Extractions: 2304 Highland Drive Sycamore, Illinois 60178 Phone: (800) 728-5483 FAX: (815) 895-2432 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.
NEJM Increased Concentrations Of Cholestanol And Apolipoprotein Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Introduction To Leukodystrophy Symptoms presented with this disease, the diagnosis and the treatment. http://www.ulf.org/ulf/intro/
Extractions: 2304 Highland Drive Sycamore, Illinois 60178 Phone: (800) 728-5483 FAX: (815) 895-2432 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.
GeneReviews: Cerebrotendinous Xanthomatosis Your browser does not support HTML frames so you must view CerebrotendinousXanthomatosis in a slightly less readable form. Please follow this link to do http://www.geneclinics.org/profiles/ctx/
Cerebrotendinous Xanthomatosis The Spectrum Of Imaging Findings cerebrotendinous xanthomatosis The Spectrum of Imaging Findings and the Correlation with Neuropathologic Findings1 Frederik Barkhof, MD http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: This article has been cited by other articles: Honda, A., Salen, G., Matsuzaki, Y., Batta, A. K., Xu, G., Hirayama, T., Tint, G. S., Doy, M., Shefer, S. (2005). Disrupted coordinate regulation of farnesoid X receptor target genes in a patient with cerebrotendinous xanthomatosis. J. Lipid Res. [Abstract] [Full Text] 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.
Extractions: HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 316:1233-1238 May 14, 1987 Number 20 Next Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis. Effect of chenodeoxycholic acid
Mutations Producing Premature Termination Of Translation And An and an amino acid substitution in the sterol 27hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Arch Neurol Abstract Presence Of Diarrhea And Absence Of Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With cerebrotendinous xanthomatosis Aad Verrips, MD http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Cerebrotendinous Xanthomatosis Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/CEREBROTENDINO
Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com 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.
