Leukodystrophy adrenoleukodystrophy, PelizaeusMerzbacher disease, Canavan disease, Alexander disease,Zellweger syndrome, Refsum disease, and cerebrotendinous xanthomatosis. http://healthlink.mcw.edu/article/921774741.html
Extractions: Subscribe now >> Leukodystrophy, also called "the leukodystrophies," refers to a group of genetic disorders that are characterized by the imperfect growth or development of the white matter or myelin sheath covering nerve fibers in the brain. The myelin sheath is an extremely complex fatty substance made of many components. Each of the leukodystrophies affects one of these components. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Alexander disease, Zellweger syndrome, Refsum disease, and cerebrotendinous xanthomatosis. Scientists say there may be other leukodystrophies that have not yet been identified. The most common signs seen in most leukodystrophies include gradual changes in an infant or child who previously appeared well. Changes may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, behavior, memory, or thought processes. The symptoms, which vary according to the specific type of leukodystrophy, may be difficult to recognize in the early stages of the disease. Treatment of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational and speech therapies, and nutritional, educational, and recreational programs.
Extractions: SCRI This document lists topics under the headings - Cholesterol Cholesterol esters Plant sterols and sterol derivatives Cholesterol 3-sulfate Analysis In animal tissues, cholesterol (cholest-5-en-3ß-ol) is by far the most abundant member of a family of polycyclic compounds known as sterols . It can also be described as a polyisoprenoid. Cholesterol has an important role in membranes and in lipid metabolism in general, so is a lipid by any definition. I do not believe that all compounds that are soluble in organic solvents need be considered as lipids. The steroidal hormones, derived biosynthetically from cholesterol, are not lipids in the sense of my definition, and are not discussed further here. Cholesterol is formed biosynthetically from squalene via lanosterol as illustrated - It is a ubiquitous component of animal tissues and of fungi, where much of it is located in the membranes (as much as 30% of some membrane lipids). In plants, it tends to be a minor component only of a complex sterol fraction (see below). It occurs in the free form and esterified to long-chain fatty acids ( cholesterol esters ) in animal tissues, including the plasma lipoproteins. Animals in general synthesise a high proportion of their cholesterol requirement, but they can also ingest and absorb appreciable amounts in their diets. Many invertebrates, including insects, cannot synthesise cholesterol and must receive it from the diet; they can also make much more use of plant sterols than do higher animals.
Home Page Of KT J. Lipid Res., 21, 339346 (1980). Occurrence of bile alcohol glucuronidein bile of patients with cerebrotendinous xanthomatosis. http://www.pharm.hiroshima-u.ac.jp/~ltakeda/PubMU.html
Gene-DIsease Set For Chromosome 2 defects in cyp27a1 are the cause of cerebrotendinous xanthomatosis (ctx), a raresterol storage disorder characterized clinically by progressive neurologic http://www.ebi.ac.uk/proteome/HUMAN/chromosomes/disease_set/2.html
Extractions: Bile salt export pump (ATP-binding cassette, sub-family B, member 11). defects in abcb11 are the cause of progressive familial intrahepatic cholestasis 2 (pfic2), an inherited liver disease of childhood. pfic2 is characterized by cholestasis and normal serum gamma-glutamyltransferase activity. defects in abcb11 are also found in cases of chronic intrahepatic cholestasis without obvious familial history of chronic liver disease ATP-binding cassette, sub-family G, member 5 (Sterolin-1). defects in abcg5 are a cause of sitosterolemia, also known as phytosterolemia or shellfish sterolemia, a rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease
Leucodistrofie/ Introduzione Treatment of Canavan disease is symptomatic, and discomfort may be alleviatedby means of supportive care. cerebrotendinous xanthomatosis (CTX). http://www.peacelink.it/appeal/gianmarco/introdu.html
Extractions: 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 leuko- dystrophies 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. When the term dystrophy is used in medicine, it is meant to imply a condition which is genetically determined, and which is progressive; that is, the condition tends to get worse as the patient gets older. Muscular dystrophy is another example of this type of illness.
Liste ORD cerebrocosto-mandibular syndrome cerebro-oculo-facio-skeletal syndrome cerebrohepatorenalsyndrome cerebrotendinous xanthomatosis (CTX) Chagas disease http://www.fmo.easynetonline.net/anciensite/listord.html
Extractions: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory
Stefania Lamon-Fava | Tufts Nutrition Faculty LamonFava S, Schaefer EJ, Garuti R, Salen G, Calandra S. Two novel mutationsin the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. http://nutrition.tufts.edu/faculty/lamon/stefania/
Extractions: Assistant Professor Scientist II, Lipid Metabolism Laboratory, Jean Mayer USDA Human Nutrition Research Center on Aging M.D., University of Padua School of Medicine, Padua, Italy Ph.D. in Molecular Biology and Cellular Pathology, University of Modena, Italy Phone Email stefania.lamon-fava@tufts.edu Research Interests : Hormonal replacement, nutrition, lipoproteins, and cardiovascular disease risk; molecular aspects of the regulation of apolipoprotein A-I gene expression by sex hormones; effects of different hormone replacement therapy treatments on apolipoprotein A-I-containing lipoprotein kinetics; endocrine aspects of aging; epidemiology of coronary heart disease risk factors. Select Publications Lamon-Fava S. High-density lipoproteins: effects of alcohol, estrogen, and phytoestrogens. Nutr Rev Lamon-Fava S, Schaefer EJ, Garuti R, Salen G, Calandra S. Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. Clin Gen Marsh JB, Welty FK, Lichtenstein AH, Lamon-Fava S, Schaefer EJ. Apolipoprotein B metabolism in humans: studies with stable isotope-labeled amino acid precursors.
NEUROSURGERY://ON-CALL Refsum disease; cerebrotendinous xanthomatosis; Neuronal ceroid lipofuscinoses.Review each of the major leukodystrophies including http://www.neurosurgery.org/resident/curriculum/neurology.html
Extractions: Demonstrate an understanding of the neurologic examination, diagnostic neurologic testing, neurologic diseases and their treatment. COMPETENCY-BASED KNOWLEDGE OBJECTIVES: Junior and Middle Levels: Discuss electroencephalography. Recognize normal and abnormal EEG patterns. Identify specific epileptic conditions by EEG findings. Describe the principles of sensory evoked potential testing (SEPs). Discuss how SEPs may be useful diagnostically. List the indications for using intraoperative SEP monitoring and describe in detail how the procedure may be performed. Describe the principles of visual evoked potential testing (VEPs). Discuss how VEPs may be useful diagnostically. Describe the principles of motor evoked potential testing (MEPs). Discuss how MEPs may be useful diagnostically. List the indications for using intraoperative MEP monitoring and describe in detail how the procedure may be performed. Discuss electromyographic (EMG) testing in detail. Describe how the testing is performed and review the diagnostic capabilities of EMG testing. Describe the EMG changes associated with neuromuscular pathology. List the indications for using intraoperative EMG testing and describe in detail how the procedure may be performed.
Publication List cerebrotendinous xanthomatosis Some clinical, radiological, geneticand pathophysiological aspects. cerebrotendinous xanthomatosis. http://www.ifkb.nl/B2/publications.html
ORPHANET® : Xanthomatosis Cerebrotendinous Translate this page ORPHANET. ORPHANET database access. xanthomatosis cerebrotendinous. Directaccess to details Alias Sterol 27-hydroxylase deficiency. Home Page. http://www.orpha.net/static/GB/xanthomatosis_cerebrotendinous.html
Xanthomatosis Wolman disease Med. Coll. of Wisconsin. xanthomatosis, cerebrotendinous SearchPUBMED for xanthomatosis, cerebrotendinous All Review Therapy Diagnosis. http://www.ohsu.edu/cliniweb/C18/C18.452.981.html
Rare Diseases List - Office Of Rare Diseases gov. Disease xanthomatosis cerebrotendinous. Synonyms CTX. cerebrotendinousxanthomatosis. Disease Information. Clinical http://ord.aspensys.com/diseaseinfo.asp?ID=5622
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.
Leukodystrophy Hub A brief definition of leukodystrophy, followed by links to research articles, overviews, case reports http://www.projectlinks.org/leukodystrophy
Extractions: Leukodystrophy, also called "the leukodystrophies," refers to a group of genetic disorders that are characterized by the imperfect growth or development of the white matter or myelin sheath covering nerve fibers in the brain. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Alexander disease, Zellweger syndrome, Refsum disease, and cerebrotendinous xanthomatosis. The most common signs seen in most leukodystrophies include gradual changes in an infant or child who previously appeared well. Changes may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, behavior, memory, or thought processes. The symptoms, which vary according to the specific type of leukodystrophy, may be difficult to recognize in the early stages of the disease.
NINDS Leukodystrophy Information Page Leukodystrophy information sheet compiled by NINDS. http://www.ninds.nih.gov/health_and_medical/disorders/leukodys_doc.htm
Extractions: Treatment for most of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational and speech therapies, and nutritional, educational, and recreational programs. Bone marrow transplantation is showing promise for a few of the leukodystrophies. What is the prognosis?
FSP Syndromes FAMILIAL SPINAL CORD SYNDROMES1 SPG General Principles11 1st cases described in 1880 by Strümpell Later more extensively discussed by Lorrain Epidemiology Prevalence 2 to 10 per 100 000 Classification according to http://www.neuro.wustl.edu/neuromuscular/spinal/fsp.html
Types Of Leukodystrophy TYPES OF LEUKODYSTROPHY. There are many types of Leukodystrophy, we areable to give a description of some types, below are links to a few. http://home.vicnet.net.au/~leuko/types.html
