1. 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 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. 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

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

U NITED L EUKODYSTROPHY F OUNDATION 2304 Highland Drive Sycamore, Illinois 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.

4. Metabolic Ataxias cerebrotendinous xanthomatosis l Cytochrome 450, subfamily XXVII (Sterol 27hydrolase); Chromosome 2q33-qter; Recessive Epidemiology http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. 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/

Your browser does not support HTML frames so you must view Cerebrotendinous Xanthomatosis in a slightly less readable form. Please follow this link to do so.

6. 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

7. Cerebrotendinous Xanthomatosis cerebrotendinous xanthomatosis. Broader Terms. inborn lipid storage disorder.Broader Terms. myelinopathy. Broader Terms. xanthomatosis http://crisp.cit.nih.gov/Thesaurus/00001487.htm

Prev Term: cerebrospinal fluid shunt Next Term: cerebrovascular accident cerebrotendinous xanthomatosis Broader Terms: inborn lipid storage disorder Broader Terms: myelinopathy Broader Terms: xanthomatosis Related Terms: autosomal recessive trait Scope Note: lipid storage disease, inherited as an autosomal recessive trait, characterized by xanthomas of the tendons, the white matter of the brain, and the lungs, and by spasticity, ataxia, pyramidal paresis, mental retardation, dementia, early cataracts, and atherosclerosis; associated with elevated plasma and tissue levels of cholestanol and defective bile synthesis, with the deposition of cholestanol in the central nervous system and myelin of peripheral nerves; the lesions contain cholesterol and dehydrocholesterol. Term Number: Send your comments to: Melody Lowe

8. Cerebrotendinous Xanthomatosis The Spectrum Of Imaging Findings And 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

9. 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: 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.

10. Quantification Of Brain Damage In Cerebrotendinous Xanthomatosis Your browser does not support frames. Click here to view the unframed reprint. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. NEJM -- Increased Concentrations Of Cholestanol And Apolipoprotein B In The Cere cerebrotendinous xanthomatosis A Rare Disease With Diverse Manifestations. cerebrotendinous xanthomatosis The Spectrum of Imaging Findings and the http://content.nejm.org/cgi/content/short/316/20/1233

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 G Salen, V Berginer, V Shore, I Horak, E Horak, GS Tint, 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: Moghadasian, M. H., Salen, G., Frohlich, J. J., Scudamore, C. H. (2002). Cerebrotendinous Xanthomatosis: A Rare Disease With Diverse Manifestations. Arch Neurol [Abstract] [Full Text] Radiology [Abstract] [Full Text] Brain [Abstract] [Full Text] Dehouck, B., Fenart, L., Dehouck, M.-P., Pierce, A., Torpier, G., Cecchelli, R. (1997). A New Function for the LDL Receptor: Transcytosis of LDL across the Blood-Brain Barrier. J. Cell Biol. [Abstract] [Full Text] HOME SEARCH ... HELP Comments and questions? Please contact us The New England Journal of Medicine is owned, published, and

12. 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

13. Metabolic Ataxias cerebrotendinous xanthomatosis GammaGlutamyl Cysteine Synthetase Hartnup cerebrotendinous xanthomatosis. l Cytochrome 450, subfamily XXVII (Sterol http://www.neuro.wustl.edu/neuromuscular/ataxia/metatax.html

Front Search Index Links ... Patient Info METABOLIC ATAXIAS Abetalipoproteinemia Biotinidase Deficiency Carnitine acetyltransferase Cerebrotendinous Xanthomatosis ... Wilson's Disease General features Usually Autosomal Recessive Multisystem Involvement Dietary treatments often effective Hartnup l SLC6A19; Chromosome 5p15.33; Recessive SLC6A19 protein Na+-dependent amino acid transporter Transports neutral amino acids Biochemistry Clinical Features Rash: Photosensitive Ataxia: Intermittent Emotional Instability Treatment Nicotinamide: 25 mg/day Maple Syrup Urine Disease (Intermittent Form) l Branched chain keto acid dehydrogenase E1, alpha polypeptide ; Chromosome 19q13.2 Protein: Branched-chain alpha-keto dehydrogenase complex Mitochondrial Catalyzes overall conversion of alpha-keto acids to acyl-CoA and CO Clinical Features Intermittent events: Ataxia, Drowsiness, Seizures Onset during 2nd year Attacks after infection, surgery, high protein Patients without therapy Mental retardation Extrapyramidal: Dystonia; Athetosis; Dysarthria Tetraplegia Ophthalmoplegia Subclinical neuropathy: Mildly slow sural SNAPs Acute axonal neuropathy: Adult; ? Specific mutation

14. Mutations Producing Premature Termination Of Translation And An Keywords cerebrotendinous xanthomatosis; parkinsonism; premature termination codon; missense mutation http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Cerebrotendinous Xanthomatosis With Oromandibular Dyskinesia Bordia S, Saifee AA Neurol India is an peerreviewed biomedical periodical of Neurological Societyof India. http://www.neurologyindia.com/article.asp?issn=0028-3886;year=2003;volume=51;iss

16. 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

17. Cerebrotendinous Xanthomatosis With Oromandibular Dyskinesia, Bordia S, Saifee A Neurol India is an peerreviewed biomedical periodical of Neurological Societyof India. http://www.neurologyindia.com/article.asp?issn=0028-3886;year=2003;volume=51;iss

18. Magnetic Resonance Imaging And Spectroscopic Changes In Brains Of Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis Nicola De Stefano1 2 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. 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

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. DR The Encyclopaedia of Medical Imaging Volume III 1 Corporate Products Financial Services Our Commitment ... Terms of Conditions

20. Fine-mapping, Mutation Analyses, And Structural Mapping Of Finemapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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