81. Diseases Of Brain metachromatic leukodystrophy, M, Brain, metachromatic leukodystrophy (low power).metachromatic leukodystrophy, M, Brain, metachromatic leukodystrophy (low power). http://155.37.5.42/NAV/MSBrain.HTM

Diseases of Brain Diagnosis G/M Organ Caption Immature G Brain Immature infant brain Immature G Brain Immature Fetal Brain Agenesis of Corpus Callosum G Brain Agenesis of Corpus Callosum Anencephaly G Brain Anencephaly Anencephaly G Brain Anencephaly Anencephaly G Brain Anencephaly with iniencephaly Anencephaly G Brain Anencephaly Anencephaly G Brain Anencephaly Anencephaly G Brain Anencephaly Arnold Chiari Malformation G Brain Arnold-Chiari Malformation Arnold Chiari Malformation G Brain Arnold-Chiari Malformation Arnold Chiari Malformation G Brain Arnold Chiari Malformation Contusion G Brain Old contusion Encephalocele G Brain Encephalocele Encephalocele G Brain Encephalocele Holoprosencephaly G Brain Semilobar holoprosencephaly Holoprosencephaly G Brain Cyclops / Holoprosencephaly Hydranencephaly G Brain Hydranencephaly Hydrocephalus G Brain Hydrocephalus Hydrocephalus G Brain Hydrocephalus Hydrocephalus G Brain Hydrocephalus Lissencephaly G Brain Lissencephaly Microcephaly G Brain Microcephaly Polymicrogyria G Brain Polymicrogyria Porencephaly G Brain Porencephalic Cyst Tuberous sclerosis G Brain Tuberous Sclerosis Abscess G Brain Abscess Abscess G Brain Cerebellar Abscess Abscess M Brain Abscess Abscess M Brain Abscess Abscess M Brain Abscess Abscess M Brain Tissue surrounding Abscess Meningitis G Brain Meningitis and IVH Meningitis M Brain Meningitis Meningitis M Brain Meningitis

82. Genes Related Hypertension 307800, HYP, metachromatic leukodystrophy HYP XLH HYPOPHOSPHATEMIA, VITAMINDRESISTANT RICKETS VITAMIN D-RESISTANT RICKETS, X-LINKED HYPOPHOSPHATEMIC D http://cmbi.bjmu.edu.cn/peptide1/pepb.htm

A B C D E F G H I J K L M N O ... P Q R S T U V W X Y Z omimID or gID Symbol or mmdbID Alias Brady Kinin and Potentiators Brady Bradykinin Antagonist BRADYKININ RECEPTOR B2; BDKRB2 bk126b4.1 (novel protein) [Homo sapiens] bk1048e9.2 (similar to ce02118) [Homo sapiens] bk1216h12.2 (kiaa0609 (c. elegans k09c8.4 like) protein) [Homo sapiens] bk116f5.2 (putative rhogap (cdc42 gtpase activating protein) like protein) [Homo sapiens] bk116f5.1 (unknown putative protein) [Homo sapiens] bk125h2.1 (myosin heavy chain) [Homo sapiens] KK Bombesin BOMBESIN-LIKE RECEPTOR 3; BRS3 GRP GASTRIN-RELEASING POLYPEPTIDE; GRP BOMBESIN EQUIVALENT GRPR GASTRIN-RELEASING PEPTIDE RECEPTOR; GRPR NMB NEUROMEDIN B; NMB NMBR NEUROMEDIN B RECEPTOR; NMBR Bone GLA peptides (BGP)/Osterocalcin BGLAP GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, BONE; BGLAP BONE GAMMA-CARBOXYGLUTAMIC ACID PROTEIN BONE Gla PROTEIN; BGP OSTEOCALCIN MGP GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, MATRIX; MGP MATRIX GAMMA-CARBOXYGLUTAMIC ACID PROTEIN MATRIX Gla PROTEIN; MGLAP

83. Demyelinating Neuropathies Xlinked IX. Krabbe; Marinesco-Sjögren; metachromatic leukodystrophy;Niemann-Pick; Pelizaeus-Merzbacher (PLP); Refsum; Prion protein http://www.neuro.wustl.edu/neuromuscular/nother/myelin.html

Front Search Index Links ... Patient Info NEUROPATHIES WITH ABNORMAL MYELINATION Clinical types Immune Toxins Drugs Hereditary ... Myelin Proteins J Kwon Immune Acute Chronic Chronic Immune Demyelinating Polyneuropathy (CIDP) Multifocal CIDP Multifocal Motor Neuropathy (MMN) Anti-MAG Syndrome GALOP Syndrome Anti-Sulfatide Antibody Syndrome (with serum M-protein Anti-GM2 antibody syndrome POEMS Syndrome P olyneuropathy O rganomegaly E ndocrinopathy or Edema M -protein S kin changes Perineuritis IgM anti-GD1b antibody syndrome : Occasional Toxins Diphtheria Buckthorn Hexachlorophene Sodium Cyanate Tellurium Drugs Predominantly demyelinating Chloroquine FK506 (Tacrolimus) Perhexiline Procainamide ... Farber's disease (Lipogranulomatosis) Dominant: IA IB III HNPP ... Thermosensitive Recessive: III (Dejerine-Sottas) 4D (LOM) HMSN-R CNS X-linked: IX Krabbe Metachromatic Leukodystrophy Niemann-Pick ... Pelizaeus-Merzbacher (PLP) Refsum Prion protein (PrP27-30): Glu200Lys mutation Creutzfeld-Jakob disease Mouse model: Prion over expression Salla disease Tenascin-XA Uneven packing of peripheral myelin sheaths Ehlers-Danlos phenotype Metabolic (unusual) Diabetes (? due to concurrent

84. Horizon Molecular Medicine phosphate synthetase deficiency, Carbohydrate deficient glycoprotein syndrome, Maplesyrup urine disease, metachromatic leukodystrophy, Methylmalonic acidemia http://www.horizonmedicine.com/symptomguide.asp

Monday, March 31, 2003 Conditions Ordering Tests Key Players Factors Influencing Test Results ... Website Links Approach to common genetic/metabolic problems select from list Approach to Cardiomyopathy *Approach to Hypoglycemia *Approach to Hyperammonemia *Approach to Metabolic Acidosis (PDF) *Developed by Mark Korson, M.D. Tufts-New England Medical Center Boston, MA Symptom Guide Anemia/thrombocytopenia Gaucher disease Homocystinuria Isovaleric acidemia Methylmalonic acidemia ... Propionic acidemia Arthritis/joint abnormalities Hemochromatosis Mucopolysaccharidoses Wilson disease Ataxia/unsteady gait Angelman syndrome Argininosuccinic acid lyase deficiency Argininosuccinic acid synthetase deficiency Biotinidase deficiency ... Tyrosinemia type III Cardiomyopathy/Cardiac problems Carnitine palmitoyltransferase II deficiency Fabry disease Glycogen storage disease Hemochromatosis ... Wilson disease Developmental delay/mental retardation X-linked adrenoleukodystrophy Angelman syndrome Arginase deficiency Argininosuccinic acid lyase deficiency ... Niemann-Pick disease types A, B, and C

85. Leukodystrophy A little technical. metachromatic leukodystrophy (MLD) Infomrationfrom the Duke University for Patients and their families. United http://www.foundhealth.com/Health/Conditions_and_Diseases/L/Leukodystrophy/

Advertisement Foundhealth.com Search All Terms Any Term Tips Browse foundhealth.com Health calculators Fast Food Database Speakers Bureau How to evaluate sites Submit a site Contact us Home - main directory Top Health Conditions and Diseases L : Leukodystrophy Globoid Cell - Krabbe Alexander disease mini information sheet - From the National Institutes of Health (USA) The Amn-Ald Community Pages - Support site for families dealing with the diseases AMN/ALD (one form of the many Leukodystrophies). Canavan Foundation - Not-for-profit foundation providing information about Canavan disease, prenatal screening, support, and reasearch. Canavan Research Fund - The Canavan Research Fund is a not-for-profit organization dedicated to pioneering research that can treat and eventually cure Canavan and other genetic brain diseases. DrKoop.com - Adrenoleukodystrophy - Information about the causes, symptons, tests available and treatment of this condition. Leukodystrophy - CHORUS document on the different types of Leukodystrophy. A little technical.

86. Patient 37 Selftest Patient 37 metachromatic leukodystrophy 1. All of the following diseasesare transmitted via autosomal recessive inheritance EXCEPT http://www.bcm.tmc.edu/neurol/challeng/pat37/selftest.html

Patient #37 Metachromatic Leukodystrophy 1. All of the following diseases are transmitted via autosomal recessive inheritance EXCEPT: A. metachromatic leukodystrophy B. globoid cell leukodystrophy (Krabbe's disease) C. adrenoleukodystrophy D. aspartoacylase deficiency (Canavan disease) 2. Which ONE of the following diseases DOES NOT affect the peripheral nervous system? A. metachromatic leukodystrophy B. globoid cell leukodystrophy (Krabbe disease) C. Canavan disease D. Cockayne disease 3. Which pairing of disease to the associated pathologic feature is NOT CORRECT? A. Krabbe disease - globoid cells B. Canavan disease - Rosenthal fibers C. MLD - demyelination and deposits of granules D. Mitochondrial myopathies - ragged red fibers 4. Which of the following are NOT available treatment options for patient affected with MDL? A. antiepileptics B. enzyme replacement therapy C. bone marrow transplantation D. antispasticity agents 5. Which of the following pairings of disease with the associated enzyme deficiency is NOT CORRECT? A.

87. Nradnormal.html metachromatic leukodystrophy. Back to Other Directory.Back to Neuroradiology Directory. Back to Home. http://www.uiowa.edu/~c064s01/nr287.htm

Metachromatic Leukodystrophy Back to Other Directory Back to Neuroradiology Directory Back to Home

88. Scholz-Bielschowsky-Henneberg Disease (www.whonamedit.com) ScholzBielschowsky-Henneberg disease metachromatic leukodystrophy.A collective term for a possibly rather heterogeneous group http://www.whonamedit.com/synd.cfm/1710.html

Home List categories Eponyms A-Z Biographies by country ... Contact Scholz-Bielschowsky-Henneberg disease Also known as: Greenfield’s syndrome Henneberg’s disease Scholtz’ disease Scholz-Bielschowsky-Henneberg syndrome Scholz-Greenfield syndrome van Bogaert-Nyssen syndrome van Bogaert-Nyssen-Pfeiffer syndrome Synonyms: Arylsulfatase A, familial progressive cerebral sclerosis, cerebroside sulfatase deficiency syndrome, leucodystrophie métachromique infantile familiale (French), leukoencephalopathy, leukodystrophia cerebri progressiva, metachromatic leukodystrophy, metachromatica diffusa leukodystrophy, type Scholz; sulfatide lipidosis. Associated persons: Max Bielschowsky Joseph Godwin Greenfield Richard Henneberg J. E. Meyer ... Ludo Van Bogaert Description: Metachromatic leukodystrophy. A collective term for a possibly rather heterogeneous group of fatal diseases with dystrophy of the white matter of the brain. This error of metabolism occurs in several forms: congenital, late infantile, adolescent, and adult (with and without arylsulphatase A deficiency). It is caused by a deficiency of the enzyme aryl sulfatase. A metachromatic material is deposited in the brain, peripheral nerves, liver, kidney, and frequently the urine. This material, sulfated lipids, would normally be degraded to cerebrosides. The course is characterised by paralysis, blindness, and severe mental retardation. While the Pelizaeus-Merzbacher form of leukoencephalopathy is transmitted as an X-linked, recessive trait, the metachromatic leukodystrophies are autosomal recessive. However, a family described by Scholz had a possible X-linked recessive leukodystrophy.

89. Cerebral Sclerosis, Diffuse metachromatic leukodystrophy,; metachromatic leukodystrophy,; MULTIPLESULFATASE DEFICIENCY; metachromatic leukodystrophy Med. Coll. http://www.ohsu.edu/cliniweb/C10/C10.228.140.276.html

Cerebral Sclerosis, Diffuse Back to previous level Encephalitis Periaxialis Search PUBMED for Encephalitis Periaxialis: All Review Therapy Diagnosis Leukodystrophy, Globoid Cell Search PUBMED for Leukodystrophy, Globoid Cell: All Review Therapy Diagnosis ... Globoid cell (Krabbe) leukodystrophy: Med. Coll. of Wisconsin Leukodystrophy, Metachromatic Search PUBMED for Leukodystrophy, Metachromatic: All Review Therapy Diagnosis ... Metachromatic Leukodystrophy: Med. Coll. of Wisconsin Subacute Sclerosing Panencephalitis Search PUBMED for Subacute Sclerosing Panencephalitis: All Review Therapy Diagnosis ... Subacute Sclerosing Panencephalitis: Virtual Hospital, U. of Iowa

90. The Myelin Project: Glossary Arylsulfatase A The lack of this enzyme results in the toxic accumulation of sulfatidedeposits in metachromatic leukodystrophy, leading to demyelination of http://www.myelin.org/glossary.htm

HOME Overview Research News ... Links Glossary Glossary Adrenoleukodystrophy: A rapidly progressive X-linked genetic disorder characterized by the accumulation of saturated very long chain fatty acids (VLCFA) that affects the white matter of the nervous system and the adrenal glands. Arylsulfatase A: The lack of this enzyme results in the toxic accumulation of sulfatide deposits in metachromatic leukodystrophy, leading to demyelination of the CNS. Astrocyte: See Glia. Asymptomatic: Having a disease without manifestation of symptoms. Axon: Myelin-ensheathed tail of the neuron that is responsible for carrying impulses away from the neuron cell body. Many interwoven axons make up a nerve. Biopsy: The removal and microscopic examination of a tissue sample taken from the living body to establish an exact diagnosis, check for signs of disease, or assess the results of a surgical or pharmacological intervention. Blood-brain barrier: A selectively permeable, protective barrier that limits the passage of substances in the bloodstream into brain tissue. It is believed to be formed by astrocytes and blood vessels.

91. Atlas Of Ultrastructural Neurocytology Fig. 7.2.4.1. metachromatic leukodystrophy; Fig. 7.2.4.2. metachromatic leukodystrophy;Fig. 7.2.4.3. Globoid cell leukodystrophy Krabbe´s disease; Fig. http://synapses.bu.edu/atlas/7_2_4intro.stm

Atlas of Ultrastructural Neurocytology About Contents Index ... Next 7.2.4 Neurometabolic Disorders Fig. 7.2.4.1. Metachromatic leukodystrophy Fig. 7.2.4.2. Metachromatic leukodystrophy Fig. 7.2.4.3. Globoid cell leukodystrophy - Krabbe´s disease Fig. 7.2.4.4. Globoid cell leukodystrophy - Krabbe´s disease ... Fig. 7.2.4.6. Ceroid-lipofuscinosis Last Updated: 7/7/00

92. Leukodystrophy CHORUS document on the different types of leukodystrophy. A little technical.Category Health Conditions and Diseases leukodystrophy......leukodystrophy. type of dysmyelinating disease hereditary; peripheralnervous system unaffected in some disorders. Specific diseases http://chorus.rad.mcw.edu/doc/00231.html

CHORUS Collaborative Hypertext of Radiology Nervous system Feedback Search leukodystrophy type of dysmyelinating disease hereditary peripheral nervous system unaffected in some disorders Specific diseases: adrenoleukodystrophy metachromatic leukodystrophy spongy degeneration (Canavan) globoid cell (Krabbe) leukodystrophy ... Cockayne syndrome Charles E. Kahn, Jr., MD - 7 July 1995 Last updated 14 March 2001 Medical College of Wisconsin

93. UNITED LEUKODYSTROPHY FOUNDATION Nonprofit, voluntary health organization dedicated to providing patients and their families with informat Category Health Conditions and Diseases leukodystrophy......UNITED leukodystrophy FOUNDATION. Email the ULF. This site last modifiedFeb. 23, 2003. (c) United leukodystrophy Foundation, Inc. Webmaster. http://www.ulf.org/

U NITED L EUKODYSTROPHY F OUNDATION 2304 Highland Drive Sycamore, Illinois USA Phone: (800) 728-5483 FAX: (815) 895-2432 The United Leukodystrophy Foundation (ULF), incorporated in 1982, is a nonprofit, voluntary health organization dedicated to providing patients and their families with information about their disease and assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness and acting as an information source for health care providers; and promoting and supporting research into causes, treatments, and prevention of the leukodystrophies. Leukodystrophies are a group of genetic nervous system disorders affecting the myelin sheath, which insulates the axon through which nerve impulses are conducted. The ULF is supported solely by donations. (Link your site to the ULF site with this logo) Frequently asked questions about ULF Who are the people behind the ULF? Endowment Fund and Funding Opportunities, Medical Research Agencies of America Send comments or apply for membership ... Links to disability resources on the web Now Available: The ULF Public Information VIDEO narrated by Tim Conway (ULF video catalogue #162). This video is available for rent by our members or sale to anyone. For more information on this and other videos

94. Short Description Of Cell Lines. Pathology Metachromatic Version 4.200205, Short description of cell lines. Pathology metachromaticleukodystrophy, lateinfantile *250100 OMIM record. - By http://www.biotech.ist.unige.it/cldb/pat131.html

95. Short Description Of Cell Lines. Pathology Metachromatic Version 4.200205, Short description of cell lines. Pathology metachromaticleukodystrophy 249900 OMIM record. By selecting the http://www.biotech.ist.unige.it/cldb/pat214.html

96. CJNS-Isolated Peripheral Neuropathy In Atypical Metachromatic Leukodystrophy: A Abstract, Close Window Isolated Peripheral Neuropathy in Atypical MetachromaticLeukodystrophy A Recurrent Mutation. Marion B. Coulter http://www.canjneurolsci.org/29maytoc/isolated.html

Abstract Close Window Isolated Peripheral Neuropathy in Atypical Metachromatic Leukodystrophy: A Recurrent Mutation Abstract: Background: Metachromatic leukodystrophy (MLD) is a genetic neurodegenerative disorder resulting from a deficiency of arylsulfatase A. Late onset forms are relatively rare. Central nervous system (CNS) involvement is characteristic at all ages. Methods: A patient in her late 40s with peripheral neuropathy was assessed by EEG, evoked potentials, CT and nerve conduction studies. Nerve and muscle biopsy samples were investigated by electron microscopy. Arylsulfatase A activity in leukocytes and excreted cerebroside sulfate were determined. The arylsulfatase A gene was investigated for mutations using polymerase chain reaction (PCR) and DNA sequencing. The identified mutation was expressed transiently in African green monkey kidney (COS) cells to determine the effect of the mutation on arylsulfatase A activity. Results: Central nervous system functions were normal. Nerve conduction velocities were decreased. Sural nerve biopsy showed inclusions typical of MLD. Arylsulfatase A was less than 5% of normal. A homozygous mutation thr286pro was identified in the arylsulfatase A gene and demonstrated to be deleterious through transient expression studies.

97. PN & CNS CENTRAL NERVOUS SYSTEM INVOLVEMENT NEUROPATHY. http://www.neuro.wustl.edu/neuromuscular/nanatomy/cns.html

Front Search Index Links ... Supratentorial Spinal Cord Toxic Cholinesterase Inhibitors ( Organophospates Hexacarbons : Occasional delayed myelopathy Nitrous oxide (N O) Hereditary Adrenomyeloneuropathy Adult-onset Leukodystrophy Charlevoix-Saguenay - Spastic Ataxia Metachromatic Leukodystrophy Neoplastic: Lymphoma (angiotropic large-cell) Cuban neuropathy Vernant's disease Ataxias Friedreich Mitochondrial - NARP Syndrome N europathy; A taxia; R etinitis P igmentosa) Posterior column ataxia + Retinitis pigmentosa HMSN VI Toxic Alcohol Carbon disulfide Chloramphenicol Disulfiram ... Mercury (Hg) Nitrous oxide (N O) Nutrition: Cuban neuropathy Vernant's disease Hearing loss X-linked Cowchock HMSN X (Connexin 32) Recessive Lom (4D) Refsum Xeroderma Pigmentosum Dominant HMSN 6 CMT 1A (Ala67Pro mutation in PMP-22) CMT 1B (Thr124Met mutation in P0) Connexin-31 (D66del mutation) HMSN 6 Dejerine-Sottas (Dominant) Motor neuron disorders Brown-Vialetto-van Laere Madras FSH Scapuloperoneal ... Myhre syndrome Other hereditary disorders Neuralgic Amyotrophy, Hereditary Hirschsprung : HSCR2; SOX 10 Anhidrotic ectoderma dysplasia Mitochondrial Neurofibromatosis-2 Neuroaxonal Dystrophy (Late infantile) ... Dilated cardiomyopathy with sensorineural hearing loss Other acquired disorders Cuban epidemic neuropathy Hypothyroidism Paraneoplastic (Anti-Hu) Sarcoid ... Superficial siderosis Cerebellum Hereditary A- b -lipoproteinemia Adult-onset Leukodystrophy ... Salla disease SCA Paraneoplastic: Hu Alcohol Supratentorial Hereditary ALS, Familial

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