81. Leukodystrophy leukodystrophy. 4 Patient Support Information. leukodystrophy, Globoid Cell Medline NLM definition An inherited metabolic disorder of the nervous system, http://www.ion.ucl.ac.uk/library/patient/leuko.htm

Leukodystrophy Patient Support Information Leukodystrophy, Globoid Cell Medline NLM definition : An inherited metabolic disorder of the nervous system, particularly the white matter. It is characterized histologically by a paucity of myelin and oligodendroglia, severe astrocytic gliosis, and massive infiltration with unique multinucleated globoid cells which are enriched in galactosylceramide. The primary genetic defect is a deficiency of GALACTOSYLCERAMIDASE. Leukodystrophy, metachromatic Medline NLM definition : A sphingolipidosis where there is defective desulfation of galactosyl-3-sulfate ceramide due to a defective enzyme cerebroside sulfatase (arylsulfatase A). The result is an accumulation of sulfatide in neural and non-neural tissues which manifests as mental deterioration and severe disturbances of the central nervous system. PubMed Medline search on Leukodystrophy Leukodystrophy factsheet : National Institute for Neurological Disorders and Stroke Support Groups Climb The Quadrangle, Crewe Hall, Weston Road, Crewe, Cheshire CW1 6UR

82. Leukodystrophy http://www.imgsrv.com/glossary/leukodystrophy.html

83. Krabbe Leukodystrophy, Infantile Form globoid cell leukodystrophy; Krabbe s disease; Krabbe s brain leukodystrophy; globoid cell brain sclerosis. ICD9-CM 330.0 leukodystrophy Web references http://www.5mcc.com/Assets/SUMMARY/TP0507.html

Krabbe leukodystrophy, infantile form DESCRIPTION: Lysosomal storage disease. Characteristics - begins in infancy, fretfulness, rigidity, followed by tonic seizures, convulsions, quadriplegia, deafness, progressive mental deterioration. Usual course - progressive. CAUSES: Lysosomal cerebrosidase deficiency Synonyms: globoid cell leukodystrophy; Krabbe's disease Krabbe's brain leukodystrophy globoid cell brain sclerosis ICD-9-CM: 330.0 leukodystrophy Web references: United Leukodystrophy Foundation Author(s): Mark R. Dambro, MD

84. Metachromatic Leukodystrophy Metachromatic leukodystrophy Metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait, which means that a person must inherit http://www.lifespan.org/ADAM/English/HIE/001205.htm

Careers at Lifespan Volunteer your time Other ways to give Lifespan's A - Z Health Information Library Injury Disease Nutrition Poison ... Prevention Metachromatic leukodystrophy Definition Metachromatic leukodystrophy is an inherited disease characterized by the absence of the enzyme arylsulfatase A, which causes a material called cerebroside sulfate to accumulate in cells. This is toxic to the cell, especially neurons (the cells of the nervous system) and causes the problems of the disease. MLD is a member of a class of diseases called lysosomal storage disorders. In these diseases, patients lack a protein needed to metabolize the food we eat. Alternative Names MLD; Arylsulfatase A deficiency Causes Metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait, which means that a person must inherit the defective gene from both parents to be affected. MLD has a wide range of symptoms. As with many other storage diseases, there are forms of early and delayed onset (late infant, juvenile, and adult types). The most common and most severe form is the late infant onset form, which has symptoms such as

85. ADLD leukodystrophy refers to a group of genetic disorders that are characterized by the imperfect Adultonset autosomal dominant leukodystrophy (ADLD), http://www.ucsf.edu/humgene/adld.htm

Research Projects Training Opportunities Education Mission Bay Campus ... Contact Us laboratories of neurogenetics autosomal dominant leukodystrophy Leukodystrophy refers to a group of genetic disorders that are characterized by the imperfect development or maintenance of the white matter (myelin sheath covering nerve fibers in the brain). Adult-onset autosomal dominant leukodystrophy (ADLD), is a slowly progressive, neurological disorder characterized by symmetrical widespread myelin loss in the CNS. The ADLD phenotype is similar to that of chronic progressive multiple sclerosis (MS). It is characterized by development of autonomic dysfunction e.g. (low blood pressure, incontinence, and blurred vision). In contrast to MS patients, ADLD sufferers experience earlier autonomic dysfunction. CT scans/MRIs of ADLD patients illustrate the widespread symmetrical demyelination that occurs, as opposed to the asymmetrical demyelination exhibited in MS. In addition, large families segregating a highly penetrant autosomal dominant MS allele have not been described. Our Research: Linkage analysis has already localized ADLD to chromosome 5q31 and we hope to isolate the ADLD gene through fine genetic mapping. ADLD represents a model for monogenic demyelination, and identification of the ADLD gene and its encoded protein could provide further insight into the molecular mechanisms of myelin assembly and maintenance. Therefore the study of this disorder could enhance our understanding of the pathogenesis of non-Mendelian demyelinating diseases such as MS and may provide novel therapeutic targets for development of new treatments.

86. Indian Agarwal Megalencephalic Leukodystrophy With Cysts Is Caused By A Common M Methods Genomic DNA from these Indian leukodystrophy patients was screened for mutations in the entire coding region, including the exon–intron boundaries, http://www.neurology.org/cgi/content/abstract/62/6/878

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Figures Only Full Text Full Text (PDF) ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Gorospe, J. R. Articles by Naidu, S. Related Collections Leukodystrophies All Pediatric NEUROLOGY 2004;62:878-882 American Academy of Neurology Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common mutation J. R. Gorospe, MD PhD B. S. Singhal, MD T. Kainu, MD PhD F. Wu, PhD D. Stephan, PhD J. Trent, PhD E. P. Hoffman, PhD and S. Naidu, MD Background: A distinct clinical syndrome characterized by megalencephaly, mild to moderate cognitive decline, slowly progressive spasticity, ataxia, occasional seizures, and extensive white matter changes with temporal cysts by imaging studies has been described in a particular ethnic group (Agarwals) in India. This disorder

87. Krabbes Disease Homepage (CJ's Page) Website devoted to krabbes leukodystrophy. Contains information and helpful links for families and info seekers. http://members.aol.com/getinmerry/krabbes.html

elcome to our site! This site is devoted to our son CJ and all the other children with Krabbes disease. CJ was diagnosed with Krabbes at 5 months old; he is now 6 1/2 years old. We are Chuck, Jenn and CJ. 3 1/2 years ago we were blessed with a beautiful daughter we named Samantha. Samantha was tested for Krabbes and found to be a carrier but not affected. We live just outside Buffalo, NY. We both work full time jobs, but different shifts so one of us is always home with CJ. We have never been away from CJ for more than a few hours because child care is nearly impossible to obtain. CJ is an unusual case; he is extremely old for an infantile case of Krabbes. Basic Information Our Story Hints and Tips 1 Hints and Tips 2 ... Favorite Links Please note: Email us here Updated 1-22-02 You are the visitor to see CJ!

88. Metachromatic Leukodystrophy Of The Brain Metachromatic leukodystrophy of Brain From the Virtual Pathology Museum, Department of Pathology, University of Connecticut Health Center. http://radiology.uchc.edu/eAtlas/CNS/1723.htm

Search Frames Search No frames PathWeb Home Feed Back ... About Metachromatic Leukodystrophy (low power) Click on Image to Enlarge it Metachromatic Leukodystrophy (low power) Very low power view of white matter in metachromatic leukodystrophy, showing many macrophages and granular collections of storage material as well as pallor of myelin. Metachromatic leukodystrophy is an inherited disease of myelin due to lack of arylsulphatase. As a result, abnormal myelin is formed. This abnormal myelin breaks down prematurely. (Description By:Margaret Grunnet, M.D. ) (Image Contrib. by:Margaret Grunnet, M.D. UCHC ) Metachromatic leukodystrophy Etiology An autosomally recessively inherited white matter dysmyelination due to absence or decrease of of the enzyme Arylsulphatase A. Pathogenesis The lack of arylsulfatase A, a lysosomal enzyme, causes build up of cerebroside sulfatides which be produce demyelination although the exact mechanism is not known., Epidemiology The disease is seen in infants, juveniles and adults. It is quite rare.

89. Rural Nurse Organization Clinic Digital Library Metachromatic leukodystrophy (Low Power) Access document Metachromatic leukodystrophy (Keyword search) List of documents; Metabolism, Inborn Errors http://ruralnurseorganization-dl.slis.ua.edu/clinical/metabolism/inborn/lysosoma

Clinical Resources by Topic: Metabolic Disorders Metachromatic Leukodystrophy Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Metachromatic Leukodystrophy Patient/Family Resources Neurology (eMedicine): Table of contents Ataxia with Identified Genetic and Biochemical Defects: Access document Pediatrics Resources See also General Pediatrics Resources Pediatrics (eMedicine): Table of contents Metachromatic Leukodystrophy: Access document Lipid Storage Disorders: Access document Radiology Resources See also General Radiology Resources CHORUS-Collaborative Hypertext of Radiology: Homepage Musculoskeletal System: List of documents Metachromatic Leukodystrophy: Access document Pathology Resources eAtlas of Pathology (Univ of Connecticut): Table of contents Diseases of Brain: List of documents Metachromatic Leukodystrophy (Low Power): Access document Metachromatic Leukodystrophy (Low Power): Access document Metachromatic Leukodystrophy (High Power): Access document Genetics Resources See also General Genetics Resources Online Mendelian Inheritance in Man: Homepage Metachromatic Leukodystrophy: Access document Metachromatic Leukodystrophy, Adult Onset:

90. GCL, Krabbe's Disease, Globoid Cell Leukodystrophy Globoid Cell leukodystrophy GCL aka Krabbe s Disease by George Jones. Globoid Cell leukodystrophy is a degenerative disease of the white matter of the brain http://www.barkbytes.com/medical/med0073.htm

Globoid Cell Leukodystrophy GCL a.k.a. Krabbe's Disease by George Jones Globoid Cell Leukodystrophy is a degenerative disease of the white matter of the brain and spinal cord, and also tied in with this is the loss of myelin , which is a fatty substance that forms the outer sheath around many nerve cells. What causes this loss is a genetic deficiency of an enzyme that is involved in breaking down certain lipids (fats) in the brain and spinal cord. GCL has been seen in puppies as young as four weeks of age, and as late as five months. The disease progresses very rapidly, resulting in death usually within two to three months after the onset of the clinical signs of the disease. There is currently no treatment for GCL. The clinical signs for GCL are: loss of coordination, failure to recognize familiar individuals (people or other pets), stumbling, blindness, weakness, tail tremors, total limb paralysis, and lack of response to pain. GCL has been found primarily in the bloodlines of West Highland White Terriers and Cairn Terriers, although it has been detected among other breeds as well. It is imperative that breeding stock be checked for this condition due to its being autosomal recessive (genetically passed on from one generation to another). In order for any autosomal recessive characteristic to appear in an offspring, both parents must either be carriers, or have the recessive characteristic. A blood test can determine the carrier (s) of this disease.

91. UniProt Knowledgebase Keyword: Metachromatic Leukodystrophy Protein which, if defective, causes metachromatic leukodystrophy, a disease characterized by intralysosomal or myelin membrane storage of http://www.expasy.org/cgi-bin/get-entries?KW=Metachromatic leukodystrophy

92. Metachromatic Leukodystrophy - HUM-MOLGEN Author, Topic metachromatic leukodystrophy. Natalia Olkhovich unregistered, posted 0317-2002 1252 PM Edit/Delete Message Reply w/Quote http://hum-molgen.org/bb/Forum2/HTML/000101.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) metachromatic leukodystrophy profile register preferences faq ... next oldest topic Author Topic: metachromatic leukodystrophy Natalia Olkhovich unregistered posted 03-17-2002 12:52 PM Is there anyone interested on mutation detection on MLD patients originating from the Ukraine with variable phenotypic expression? IP: 195.64.227.130 All times are ET (US) next newest topic next oldest topic Administrative Options: Close Topic Archive/Move Delete Topic Hop to: Select a Forum or Archive List of Forums: Biotechnical requests and sources DIAGnostics - Clinical Research (professional requests) Ethical, legal and social implications Open Topic Forum List of Archives: Genetic News DIAGnostics - Clinical Research Contact Us HUM-MOLGEN HUM-MOLGEN Powered by: Ultimate Bulletin Board, Version 5.44a By posting requests at HUM-MOLGEN you reach more than 9.500 mailing list subscribers and a 6 digit number of www users. Therefore post high quality messages only, including full name and institutional address.

93. MakingContact.org - Linking Families With Disabled Children I have found 5 people listed against leukodystrophy, they are listed updated 04 Oct 2004, I have a form of leukodystrophy which impaires my mobility. http://www.makingcontact.org/index.php?ci=925

94. Hill Health Topics A-Z - Leukodystrophy leukodystrophy. National Organization for Rare Disorders. Important It is possible that the main title of the report leukodystrophy is not the name you http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord676&SE

95. Alexander Disease Dysmyelogenic leukodystrophy; Dysmyelogenic leukodystrophyMegalobare; Fibrinoid Degeneration of Astrocytes; Fibrinoid leukodystrophy; Hyaline Panneuropathy http://webcenter.health.webmd.netscape.com/hw/health_guide_atoz/nord56.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Alexander Disease Important It is possible that the main title of the report Alexander Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Dysmyelogenic Leukodystrophy Dysmyelogenic Leukodystrophy-Megalobare Fibrinoid Degeneration of Astrocytes Fibrinoid Leukodystrophy Hyaline Panneuropathy Leukodystrophy with Rosenthal Fibers Megalencephaly with Hyaline Inclusion Megalencephaly with Hyaline Panneuropathy Disorder Subdivisions None General Discussion In infants and young children affected by Alexander Disease, associated symptoms and findings include a failure to grow and gain weight at the expected rate (failure to thrive); delays in the development of certain physical, mental, and behavioral skills that are typically acquired at particular stages (psychomotor retardation); and progressive enlargement of the head (macrocephaly). Additional features typically include sudden episodes of uncontrolled electrical activity in the brain (seizures); abnormally increased muscle stiffness and restriction of movement (spasticity); and progressive neurological deterioration. In some cases, there is hydrocephalus. In most cases, Alexander Disease appears to occur randomly for unknown reasons (sporadically), with no family history of the disease. In an extremely small number of cases, it is thought that the disorder may have affected more than one family member.

96. Metachromatic Leukodystrophy - Blood And Marrow Transplantation, Medical School, Metachromatic Leukiodystromphy and BMT Blood and Marrow Transplantation, Medical School, at the University of Minnesota. http://www.bmt.umn.edu/BMT/disease/Metabolic/MLD.html

Return to: Medical School Academic Health Center myAHC U of M Home ... BMT Home Fairview-University BMT Program MMC 803 420 Delaware St SE Minneapolis, MN 55455 888.601.0787 (toll-free) bmt@umn.edu Home Diseases Inherited Metabolic Storage Diseases and BMT > Metachromatic Leukodystrophy Metachromatic Leukodystrophy Metachromatic Leukodystrophy (MLD) MLD can manifest itself at three distinct stages in life. Type I, Late Infantile, appears between six months to two years of age. The child will develop normally until the onset of the disease, at which point parents will first begin to notice low muscle town. She/he will be slow in learning to walk, or begin to stagger and fall frequently. Eventually, the child will lose any abilities she/he had once acquired, including: speaking, moving, and swallowing. Eventually the child will need to be tube fed, and death usually occurs three to five years after onset. Because MLD is genetic, it is difficult to cure. Current approaches to MLD include genetic counseling for parents who are carriers of the disease, and improvements in early detection of the disease in unborn children. For MLD patients, a variety of treatments have been tried. The goal of treatment is to get the missing enzyme into the body. Unfortunately, directly injecting ASA into the bloodstream has proven unsuccessful, since the enzyme cannot make it from there to the brain. Injecting ASA directly into the brain has not worked either, because not enough of the enzyme is absorbed.

97. Leukodystrophy Information Page: National Institute Of Neurological Disorders An leukodystrophy information sheet compiled by NINDS. http://accessible.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section Funding ... Jobs and Training You are here: Home Disorders Leukodystrophy Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. More about Leukodystrophy Studies with patients Research literature Press releases NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Content for this page NINDS Leukodystrophy Information Page Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Leukodystrophy? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Leukodystrophy? Is there any treatment? 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?

98. Leukodystrophy Press Releases: National Institute Of Neurological Disorders And leukodystrophy information sheet compiled by NINDS. http://accessible.ninds.nih.gov/disorders/leukodystrophy/press_leukodystrophy.ht

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section Funding ... Jobs and Training You are here: Home Disorders Leukodystrophy Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. More about Leukodystrophy Studies with patients Research literature Press releases - you are in this section NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Content for this page Leukodystrophy Press Releases Transplanted Neural Stem Cells Migrate Throughout the Abnormal Brain, Reduce Disease Symptoms Monday, Jun 7, 1999 For years, researchers have probed the mysteries of neural stem cells immature cells that can differentiate into all the cell types that make up the brain with the idea that they might be useful for treating brain disorders such as Parkinson's disease. Important new animal research now suggests that these cells may be effective in treating a much broader array of brain diseases than previously anticipated, including Alzheimer's disease and many childhood brain disorders. Page footer Accessibility Graphical version Start of page

99. Metachromatic Leukodystrophy Metachromatic leukodystrophy Diffusion MR Imaging Findings Metachromatic leukodystrophy (demyelinating neuropathy caused by the absence of http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=199

100. Metachromatic Leukodystrophy - Definition Of Metachromatic Leukodystrophy In The Definition of metachromatic leukodystrophy in the Medical Dictionary and Thesaurus. metachromatic leukodystrophy explanation. http://medical-dictionary.thefreedictionary.com/metachromatic leukodystrophy

Domain='thefreedictionary.com' word='metachromatic leukodystrophy' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia metachromatic leukodystrophy Also found in: Acronyms 0.03 sec. Page tools Printer friendly Cite / link Email Feedback metachromatic leukodystrophy n. An inherited metabolic disorder characterized by myelin loss, accumulation of metachromatic lipids in the white matter of the central and peripheral nervous systems, a marked excess of sulfatidates in white matter and in urine, progressive paralysis, and dementia. Mentioned in No references found Medical browser Full browser metacarpus metacentric metacentric chromosome metacercaria ... metachromatic body metachromatic leukodystrophy metachromatic stain metachromatism metachromophil metagenesis ... metachromatic body metachromatic leukodystrophy metachromatic stain metachromatism metachromatism metachromophil ... Metacomet Word (phrase): Word Starts with Ends with Definition Free Tools: For surfers: Browser extension Word of the Day NEW!

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