61. Medical Image Database, Radiology Teaching Files And Cases, MedPix™: Single alexander disease Factoid 250 Created 1988-01-01 000000-05 - Modified 2005-06-03 061330-04. ACR Codes 1.6 aka fibrinoid leukodystrophy, early http://rad.usuhs.mil/medpix/radpix.html?mode=single&comebackto=mode=geo_browse&r

62. RedNova News - Science - Alexander Disease RedNova Health Linkalexander diseaseSynonyms Dysmyelogenic LeukodystrophyDysmyelogenic LeukodystrophyMegalobareFibrinoid Degeneration of http://www.rednova.com/news/science/399/alexander_disease/

ANDP("ntn"); Ads_kid=0;Ads_bid=0;Ads_xl=0;Ads_yl=0;Ads_xp='';Ads_yp='';Ads_xp1='';Ads_yp1='';Ads_opt=0;Ads_wrd='[KeyWord]';Ads_prf='';Ads_par='';Ads_cnturl='';Ads_sec=0;Ads_channels=''; Home News Video Images ... Site Map SPECIAL NEWS Return to Flight REDNOVA NEWS Space Science Technology Health ... Video News REDNOVA EXTRAS RedNova E-Mail My RedNova Join RedNova RSS Feeds ... Tell A Friend, Win $500 Ads by Google Posted on: Thursday, 2 January 2003, 06:00 CST E-mail this to a friend Printable version Discuss this story in the forum Change Font Size: A A A Alexander Disease RedNova Health Link Alexander Disease 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 More science, space, and technology from RedNova Ads by Google More News in this Category E-mail this to a friend Printable version Discuss this story in the forum a d v e r t i s e m e n t QUIZ ME Should the citizens who refuse leave hurricane affected areas be forced to leave?

63. Login http://www.journals.uchicago.edu/AJHG/journal/issues/v69n5/013136/013136.html

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64. EMedicine - Krabbe Disease : Article By David H Tegay, DO, FACMG NiemannPick Disease. Other Problems to be Considered. alexander disease Canavan disease Metachromatic leukodystrophy Pelizaeus-Merzbacher disease http://www.emedicine.com/PED/topic2892.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Krabbe Disease Last Updated: May 26, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: galactocerebrosidase deficiency, galactosylceramide beta-galactosidase deficiency, GALC deficiency, globoid cell leukodystrophy, Krabbe's disease, infantile irritability, hypertonia, hyperesthesia, psychomotor arrest, galactosylceramide lipidosis, diffuse infantile familial sclerosis, myelin sheath disorders, sphingolipidosis AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: David H Tegay, DO, FACMG , Assistant Professor of Pediatrics and Internal Medicine, Co-Director, Division of Medical Genetics, Stony Brook University Hospital Coauthor(s): Shari Fallet, DO , Chief, Division of Genetics, Assistant Clinical Professor of Human Genetics and Pediatrics, Children's Hospital of New Jersey at Newark Beth Israel Medical Center David H Tegay, DO, FACMG, is a member of the following medical societies:

65. Journal Of Spinal Disorders Techniques - Fulltext Volume 15(3 alexander disease is a rare, degenerative disorder of the central Here we describe a 13year-old boy with alexander disease and severe scoliosis. http://www.jspinaldisorders.com/pt/re/jsdt/fulltext.00024720-200206000-00017.htm

66. Journal Of Spinal Disorders Techniques - Abstract Volume 15(3 Summary alexander disease is a rare, degenerative disorder of the Here we describe a 13year-old boy with alexander disease and severe scoliosis. http://www.jspinaldisorders.com/pt/re/jsdt/abstract.00024720-200206000-00017.htm

67. GeneDx :: Genetic Testing And Diagnosis Company alexander disease. GFAP (glial fibrillary acidic protein) alexander disease, Alexander s Disease, GFAP, Canavan disease, Canavan, Leukodystrophy, http://www.genedx.com/services/dis_alx.php

207 Perry Parkway Gaithersburg, MD 20877 Phone: 301-519-2100 Fax: 301-519-2892 Search Our Site What We Do Who We Are The Principals Contact Us ... Buccal Swab Kits / Order Alexander Disease GFAP (glial fibrillary acidic protein) Using genomic DNA obtained from buccal (cheek) swabs or blood (5cc in EDTA), all 9 exons of the GFAP gene are tested using bi-directional sequence analysis. All of the mutations identified in AD have been heterozygous missense mutations that are suspected to cause a gain in GFAP function. Many of these point mutations affect an arginine residue. There are mutation hot spots in exons 1 and 4, although mutations have been identified in other regions of the gene. Mutations found in infantile AD have also been seen in juvenile and adult forms of AD, suggesting that other factors contribute to the expression of the disease. A number of studies have found that 90-95% of individuals diagnosed with Alexander disease have GFAP mutations. Thus, sequence analysis is expected to have a very high sensitivity for this disorder. Information Sheet Consent Document Sample Submission Form (Test Requisition Form) Payment Options Form Alexander Disease, Alexander's Disease, GFAP, Canavan disease, Canavan, Leukodystrophy, Megalencephaly, Rosenthal fibers

68. Neuroguide.com - Human Neurological Diseases Web sites providing information on human neurological diseases can be accessed via this section. alexander disease. * alexander disease Information (NINDS) http://www.neuroguide.com/cgi-bin/pdistoc.pl?file=AlexanderDisease

69. Alexander Disease Bibliography By Topic alexander disease putative mechanisms of an astrocytic encephalopathy. Adult alexander disease with autosomal dominant transmission a distinct entity http://www.waisman.wisc.edu/alexander/bib-topic.html

Recent Reviews Familial - Putative Familial Adult Onset Recent Reviews Mignot, C., Boespflug-Tanguy, O., Gelot, A., Dautigny, A., Pham-Dinh, D., and Rodriguez, D. (2004). Alexander disease: putative mechanisms of an astrocytic encephalopathy Myelin Biology and Disorders, vol. 2 . (pp. 1115-1124). Amsterdam: Elsevier. Myelin Biology and Disorders, vol. 2 . (pp. 851-866). Amsterdam: Elsevier. Jacob, J., Robertson, N. J., and Hilton, D. A. (2003). The clinicopathological spectrum of Rosenthal fibre encephalopathy and Alexander's disease: a case report and review of the literature Messing, A. and Brenner, M. Alexander disease: GFAP mutations unify young and old. Lancet Neurology GFAP mutations in Alexander disease. International Journal of Developmental Neuroscience 20:259-268, 2002. A. B. Johnson. Alexander disease: a review and the gene Int.J.Dev.Neurosci. Alexander disease: new insights from genetics. Journal of Neuropathology and Experimental Neurology Quinlan, R. (2001). Cytoskeletal catastrophe causes brain degeneration Nature Genetics Small heat shock proteins, the cytoskeleton, and inclusion body formation.

70. Summary For Parents alexander disease, a leukodystrophy, is a progressive and usually fatal neurological The most common form of alexander disease is the infantile form, http://www.waisman.wisc.edu/alexander/parents.html

Alexander disease, a leukodystrophy, is a progressive and usually fatal neurological disorder in which the destruction of white matter in the brain is accompanied by the formation of abnormal deposits known as Rosenthal fibers. Rosenthal fibers are aggregations of protein that occur in the astrocytes, which are nonneuronal, supporting cells of the brain. These aggregates are found occasionally in other disorders, but not with the abundance or particular distribution in the brain that occurs in Alexander disease. The most common form of Alexander disease is the infantile form, which usually becomes apparent during the first two years of life. Typically there is both mental and physical developmental delay, followed by loss of milestones, an abnormal increase in head size, and often seizures. The juvenile form of Alexander disease is less common and generally has onset between the ages of four and fifteen. These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Survival is quite variable, with rare juvenile cases surviving several decades. Even rarer adult-onset forms of Alexander disease have been reported that sometimes appear to be inherited in an autosomal dominant pattern. The disease occurs in both sexes, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution. At present, there is no animal model of Alexander disease. Transgenic mice with added copies of a normal human GFAP gene developed Rosenthal fibers and died at an early age, but did not display all of the features of true Alexander disease.

71. The Health Library — Nutritional & Metabolic Alexanders DiseaseUnited Leukodystrophy Foundation alexander disease Summary for ParentsWaisman Center, University of Wisconsin http://healthlibrary.stanford.edu/resources/internet/bodysystems/metabolic_ae.ht

Diseases and Disorders Nutrition: General Nutrition Dietary Recommendations Dietary Supplements Caffeine ... Water Balance Nutritional Disease: Malnutrition Obesity Metabolic Disease: General Metabolic Disease A-E F-G H-L ... R-Z Metabolic Diseases (A - E) (Jump to: A B C D E F G H I J K L M N ... P Q R S T U V W X Y Z Adrenoleukodystrophy Adrenoleukodystrophy:NINDS Adrenoleukodystrophy:United Leukodystrophy Foundation Neonatal Adrenoleukodystrophy:United Leukodystrophy Foundation X-Linked Adrenoleukodystrophy (XALD):Peroxisome Website ... X-Linked Adrenoleukodystrophy:GeneReviews Aicardi-Goutieres Syndrome Aicardi-Goutieres Leukodystrophy Syndrome:United Leukodystrophy Foundation What is Aicardi-Goutieres Syndrome?:International Aicardi-Goutieres Syndrome Association Aicardi-Goutieres Syndrome:GeneReviews Alexander Disease Alexander Disease:NINDS Alexanders Disease:United Leukodystrophy Foundation Alexander Disease Summary for Parents:Waisman Center, University of Wisconsin Alexander Disease:Genetics Home Reference, NLM ... Alexander Disease:GeneReviews Alkaptonuria Alkaptonuria: A Fact Sheet for Patients:NIH Clinical Center [PDF] What is AKU?:Alkaptonuria Soiety

72. James E. Goldman, MD, PhD We are also studying alexander disease, a leukodystrophy in which the Recent studies show that alexander disease is caused by mutations in the gene http://www.research.hs.columbia.edu/Faculty_Profiles/profiles/goldman_je.html

CUMC Home About Education Research ... Patient Care Faculty Profile Address: 630 West 168th Street Room 15-420 New York, NY 10032 Phone: Fax: jeg5@columbia.edu Education and Training M.D., Ph.D. New York Med College Affiliations Department of Pathology Psychiatry Stem Cell Consortium Taub Institute for Research on Alzheimer's Disease and the Aging Brain Training Graduate and Research Programs in Pathobiology MD/PhD Program James E. Goldman, M.D., Ph.D. Professor of Pathology Research Summary Neurodegenerative disorders Our lab has been tracing cell lineages in the developing mammalian CNS to study the origins of neurons and glia from immature neuroectodermal cells. Using recombinant retroviruses to transfer genes into progenitor cells, we have followed the migration and differentiation of immature cells of germinal zones in vivo and have determined time- and location-specific patterns of glial development. We are examining what roles environmental vs. lineage-controlled factors play in specifying cell fates. We are particularly interested in how progenitors migrate through the developing brain, focusing on molecular mechanisms that regulate the direction, the beginning and the cessation of migration. Our lab is also starting to examine these same type of mechanisms as they apply to glial tumor migration through the brain.

73. UNIVERSITY OF MARYLAND School Of Medicine Brain And Tissue Bank Links to Summaries for Disorder. alexander disease. UMB ID , AGE. UMB_0885, 192 days. UMB_1482, 244 days. UMB_1070, 347 days. UMB_1161, 2 years 175 days http://medschool.umaryland.edu/BTBank/Alexander_Disease.htm

UNIVERSITY OF MARYLAND School of Medicine Brain and Tissue Bank Links to Summaries for Disorder: Alexander Disease UMB ID# AGE 192 days 244 days 347 days 2 years 175 days 6 years 87 days 13 years 364 days

74. Penn State Faculty Research Expertise Database (FRED) , A rare inherited disorder of myelin formation. alexander disease is a progressive leukencephalopathy whose hallmark is the......alexander disease. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D038261

75. GEMdatabase - Selected Title TITLE, alexander disease. DESCRIPTION, This review focuses on the diagnosis, and genetic counseling of patients and families with alexander disease. http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=820

76. Search Jablonski's Syndromes Database UAB MRRCGenetic Basis for alexander disease This image shows some cultured astrocytes that have been stained with a fluorescent antibody that reveals the presence http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Alexander disease&field=n

77. 137780.0001 ALEXANDER DISEASE GFAP, ARG239CYS (2001) found that 5 unrelated patients with alexander disease (203450) In a 1year-old female with typical features of alexander disease, Shiroma et al. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?-e [omim_allele-id:137780_1]

78. 161015.0003 ALEXANDER DISEASE NDUFV1, ALA341VAL (1999) was consistent with alexander disease, the diagnosis was not pathologically confirmed. They identified several mutations in the GFAP gene (137780) as http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?-e [omim_allele-id:161015_3]

79. Florida State University College Of Medicine Digital Library alexander disease Access document. Pathology Resources. Kumar Robbins and Cotran Pathologic Basis of Disease 7th Ed.2005 (MD Consult) Table of contents http://fsumed-dl.slis.ua.edu/clinical/metabolism/inborn/lipid/leukodystrophies/a

Clinical Resources by Topic: Metabolic Disorders Alexander Disease Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Genetic Testing Clinical Resources Mental Retardation Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources ... Alexander Disease Patient/Family Resources Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult): Table of contents Medical Library subscription INFO Chapter 30 - Storage Diseases: Neuronal Ceroid-Lipofuscinoses, Lipidoses, Glycogenoses, and Leukodystrophies: Access document Introduction: Access document Leukodystrophies: Access document Reviews and Selected Updates: Access document References: Access document Other MD Consult Reference Books: Table of contents Medical Library subscription INFO All MD Consult Reference Books for Neurology (eMedicine): Table of contents Inherited Metabolic Disorders: Access document Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Alexander Syndrome: Access document Pediatrics Resources See also General Pediatrics Resources Behrman: Nelson Textbook of Pediatrics 17th Ed.-2004 (MD Consult):

80. Health/Conditions And Diseases/Neurological Disorders/Demyelinating Diseases/Leu Resources on Adrenoleukodystrophy, alexander disease, Canavan Disease, MCW HealthLink alexander disease Information sheet from the Medical College of http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Neurological_

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Categories Adrenoleukodystrophy Canavan Krabbe Disease Metachromatic Leukodystrophy Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... Aicardi-Goutieres Syndrome News, descriptions, contacts, and other information concerning this leukodystrophy. url: www.aicardi-goutieres.com Alexander Disease Information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke. url: www.ninds.nih.gov/health_and_medical/disorders/ale... Call Again Soon Directed at making life better for people affected by Leukodystrophy and those who know and love them. url: www.joejohnson.net/ Devoted to Brianna Medical experiences and terminology helpful for parents to understand and cope with genetic disorders. One little girl's story, concerning Canavan Leukodystrophy offers help and hope to many. url: hometown.aol.com/ydb739094/brianna.html

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