81. Leukodystrophy Articles, Support Groups, And Resources leukodystrophy articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). leukodystrophy. http://www.medhelp.org/HealthTopics/Leukodystrophy.html

[Health Topics A-Z] A B C D ... Z Leukodystrophy Support Groups: United Leukodystrophy Foundation, Inc. [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

82. Metachromatic Leukodystrophy Metachromatic leukodystrophy. from the Metachromic leukodystrophyfoundation website (http//www.MLDfoundation.org). AN OVERVIEW http://uscneurosurgery.com/glossary/m/metachromatic leukodystrophy.htm

Metachromatic leukodystrophy from the Metachromic leukodystrophy foundation website: http://www.MLDfoundation.org AN OVERVIEW OF MLD MLD stands for metachromatic leukodystrophy. Translated from doctor talk and applied to MLD that means: leuko - white matter dystrophy - degeneration meta - change chromatic - color. MLD's name therefore comes from degeneration in the white matter of the brain and Central Nervous System (CNS) which has a color on staining that should not be there. first published reports of MLD appeared in the early 1960' with the first attempted experimental treatments in the early 1980's being bone marrow transplants*. Genetics - MLD is caused by a genetic defect that results in the lack of a lysosomal enzyme, Arylsulfatase A. This enzyme normally breaks down substances called sulfatides. The missing enzyme causes sulfatides to increase in brain, peripheral nerves, liver, and kidney*. The accumulations are usually most obvious in the white matter of the central nervous system (CNS) and the peripheral nerves. Sulfatides cause the breakdown of the membranes myelin sheath, the "insulator" around the body's nerves, resulting in permanent damage to the nerves*.

83. NINDS Leukodystrophy Information Page More about NINDS leukodystrophy Information Page. Content for thispage. NINDS leukodystrophy Information Page. Reviewed 1119-2001. http://accessible.ninds.nih.gov/health_and_medical/disorders/leukodys_doc.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 ... Find People 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. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Leukodystrophy Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Leukodystrophy Information Page Reviewed 11-19-2001 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?

84. Leukodystrophy leukodystrophy CHORUS document on the different types of leukodystrophy.A little technical. Metachromatic leukodystrophy (MLD 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.

85. CJNS-A Rare Form Of Adult Onset Leukodystrophy: Orthochromatic Leukodystrophy Wi Abstract, Close Window A Rare Form of Adult Onset leukodystrophy Orthochromaticleukodystrophy with Pigmented Glia P. Shannon, JR Wherrett and S. Nag. http://www.canjneurolsci.org/24maytoc/rareform.html

Abstract Close Window A Rare Form of Adult Onset Leukodystrophy: Orthochromatic Leukodystrophy with Pigmented Glia P. Shannon, J.R. Wherrett and S. Nag Abstract: Background: Orthochromatic leukodystrophy with pigmented glia and scavenger cells is a rare leukodystrophy of unknown etiology. This report describes a 42-year-old man with a history of depression, dementia and parkinsonism having the pathological features of orthochromatic leukodystrophy with pigmented glia. Methods: We reviewed the clinical history and pathology of autopsy and brain biopsy material. Results: Conclusions: The diagnosis of orthochromatic leukodystrophy with pigmented glia and scavenger cells can only be made antemortem if the brain biopsy contains adequate white matter and although a rare condition, it should be considered in the differential diagnosis of an adult onset leukodystrophy. Can. J. Neurol. Sci. 1997; 24: 146-150

86. 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.

87. Health Ency.: Disease: Metachromatic Leukodystrophy Metachromatic leukodystrophy. Causes and Risks. Metachromatic leukodystrophy(MLD) is transmitted as an autosomal recessive trait. http://www.austin360.com/shared/health/adam/ency/article/001205.html

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia Important notice Ency. home Disease M Metachromatic leukodystrophy Overview Symptoms Treatment Prevention Alternative names: MLD; Arylsulfatase A deficiency Definition: Metachromatic leukodystrophy is an inherited metabolic storage disease characterized by the absence of the enzyme arylsulfatase A and increased storage of sulfatide. Causes and Risks Metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait. 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 the most severe form) is the late infant onset form, which has symptoms such as irritability decreased muscle tone muscle wasting , the loss of the ability to walk. Debility is progressive with blindness seizures , and partial paralysis . Death occurs usually before age 10. Both the juvenile and adult forms have later onset but similar symptoms. In the adult and juvenile forms, psychosis and emotional disturbances are an important part of the illness. The juvenile form is fatal within a few years of diagnosis. The adult form may be drawn out over many years.

88. GCL, Krabbe's Disease, Globoid Cell Leukodystrophy Globoid Cell leukodystrophy GCL aka Krabbe's Disease by George JonesGloboid Cell leukodystrophy is a degenerative disease of the 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.

89. Health Library - Leukodystrophy leukodystrophy. Synonyms. None. Disorder Subdivisions. Refsum's Disease; CerebrotendinousXanthomatosis; Metachromatic leukodystrophy; Globoid leukodystrophy; http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

90. Health Library - Leukodystrophy, Krabbe's leukodystrophy, Krabbe's. Synonyms Galactosylceramidase Deficiency; Globoidleukodystrophy, Krabbe's Type; Krabbe's Disease; leukodystrophy http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

91. May 18, 2001 New Specialty Clinic For Leukodystrophy Metabolic May 18, 2001. New specialty clinic for leukodystrophy metabolic disorders For moreinformation about the Partners leukodystrophy Clinic, call (617) 7265750. http://www.mgh.harvard.edu/DEPTS/pubaffairs/Issues/051801leukody.htm

May 18, 2001 New specialty clinic for leukodystrophy metabolic disorders Adrenoleukodystrophy (ALD), the most common of the leukodystrophies, was made famous in the 1992 film "Lorenzo's Oil," starring Nick Nolte and Susan Sarandon. The actors portrayed the real-life story of Augusto and Michaela Odone as they desperately sought a cure for their son, Lorenzo, who was diagnosed with ALD at the age of 5. O'Neill, who researches the molecular basis of ALD, established the clinic to help clinicians recognize leukodystrophies and to contribute ongoing research into causes of and treatments for the disorders. "We now are looking at the molecular biology of the disease," says O'Neill. "The challenge is to translate what we find in the test tube into specific therapies. At this point, we can treat patients with specialized neurologic management of behavioral problems and other symptoms. The clinic also can provide genetic counseling to patients' families." For more information about the Partners Leukodystrophy Clinic, call (617) 726-5750.

92. UNITED LEUKODYSTROPHY FOUNDATION UNITED leukodystrophy FOUNDATION. leukodystrophy Information From Other Sites.Adrenoleukodystrophy from PedBase. Adrenoleukodystrophy Radiology. http://www.ceet.niu.edu/Site/Index.htm

U NITED L EUKODYSTROPHY F OUNDATION 2304 Highland Drive * Sycamore, Illinois 60178 * Voice: (815) 895-3211 * FAX: (815) 895-2432 Leukodystrophy Information From Other Sites Adrenoleukodystrophy from PedBase Adrenoleukodystrophy Radiology Alexander's Disease from PedBase Brain Connections ... Return to ULF Home page

93. CCHS Clinical Digital Library Metachromatic leukodystrophy Clinical Resources. Pediatric Database (PEDBASE)List of documents Metachromatic leukodystrophy Access document. http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/sphingoli

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 Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Health Sciences Library subscription INFO Chapter 349: Lysosomal Storage Diseases: Table of contents General Features: Access document Physiology of Lysosomes: Access document Pathogenesis of Lysosomal Storage Diseases: Access document Specific Disorders: Access document The Leukodystrophies: Access document Hoffman: Hematology: Basic Principles and Practice 3rd Ed.-2000 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 44 - Lysosomal Storage Diseases: Perspective and Principles: Access document The Concept of the Lysosome: Access document Physiology of Lysosomes: Access document Pathophysiology of Lysosomal Storage Diseases: Access document Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document Genotype/Phenotype Correlations: Access document Therapeutic Approaches and Implications: Access document Results and Lessons from Therapy: Access document Diagnosis of Lysosomal Storage Diseases: Access document Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult):

94. ClinicalTrials.gov - Linking Patients To Medical Research: Results Search results for leukodystrophy ALLFIELDS are shown below. Show all trials,including those no longer recruiting patients. 6 studies were found. http://www.clinicaltrials.gov/search/term=Leukodystrophy

Home Search Browse Resources ... About Search results for Leukodystrophy [ALL-FIELDS] are shown below. Show all trials, including those no longer recruiting patients. 6 studies were found. Recruiting The Classification and Cause of Leukodystrophies of Unknown Cause Condition: Lysosomal Storage Disease Recruiting Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Conditions: I Cell Disease; Fucosidosis; Globoid Cell Leukodystrophy; Adrenoleukodystrophy; Mannosidosis; Niemann-Pick Disease; Pulmonary Complications; ... Recruiting Phase II Study of Allogeneic Bone Marrow or Umbilical Cord Blood Transplantation in Patients With Lysosomal or Peroxisomal Inborn Errors of Metabolism Conditions: Graft Versus Host Disease; Lysosomal Storage Diseases; Peroxisomal Disorders Recruiting Magnetic Stimulation of the Human Nervous System Conditions: Demyelinating Disease; Healthy; Lysosomal Storage Disease; Motor Neuron Disease; Movement Disorder Recruiting Study of Tongue Pressures Conditions: Deglutition Disorder; Healthy

95. Metachromatic Leukodystrophy - HUM-MOLGEN Author, Topic metachromatic leukodystrophy. Natalia Olkhovich unregistered,posted 0317-2002 1252 PM Edit/Delete Message Reply w/Quote http://www.hum-molgen.de/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 Contact Us HUM-MOLGEN HUM-MOLGEN Powered by: Ultimate Bulletin Board, Version 5.44a By posting requests at HUM-MOLGEN you reach more than 8.000 mailing list subscribers and a 6 digit number of www users. Therefore post high quality messages only, including full name and institutional address.

96. Metachromatic Leukodystrophy The Official Parent's Sourcebook on METACHROMATIC leukodystrophy (ArylsulfataseA Deficiency; Cerebroside Sulfatase Deficiency; Diffuse Cerebral Sclerosis http://www.icongrouponline.com/health/Metachromatic_Leukodystrophy.html

ICON Health Publications Official Health Sourcebooks The Official Parent's Sourcebook on METACHROMATIC LEUKODYSTROPHY (Arylsulfatase A Deficiency; Cerebroside Sulfatase Deficiency; Diffuse Cerebral Sclerosis; Greenfield disease; Late-Onset Metachromatic Leukodystrophy; metachromatic brain leukodystrophy; Metachromatic Form of Diffuse Cerebral; metachromatic leukoencephalopathy; Sulfatide Lipidosis; sulfatidosis) Revised and Updated for the Internet Age Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Electronic File * E-Book version sent via e-mail in 2 business days Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on Metachromatic Leukodystrophy. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Arylsulfatase A Deficiency; Cerebroside Sulfatase Deficiency; Diffuse Cerebral Sclerosis; Greenfield disease; Late-Onset Metachromatic Leukodystrophy; metachromatic brain leukodystrophy; Metachromatic Form of Diffuse Cerebral; metachromatic leukoencephalopathy; Sulfatide Lipidosis; sulfatidosis Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Metachromatic Leukodystrophy: Guidelines

97. Nature Publishing Group doi10.1038/85454 March 2001 Volume 7 Number 3 pp 310 316 In vivo gene therapyof metachromatic leukodystrophy by lentiviral vectors correction of http://www.nature.com/cgi-taf/DynaPage.taf?file=/nm/journal/v7/n3/full/nm0301_31

98. 1725 Leukodystrophy And Oculocutaneous Albinism In A Child With Program Nr 1725 leukodystrophy and oculocutaneous albinism in a childwith a 11q14 deletion identified by FISH. D. Lacombe 1 , C http://www.faseb.org/genetics/ashg99/f1725.htm

99. Health Library - Leukodystrophy Past Topics. leukodystrophy. Self Help Clearinghouse. United leukodystrophyFoundation, Inc. National network. Founded 1982 http://uhcs.universityhealth.org/library/healthguide/selfhelp/topic.asp?hwid=shc

100. Avera Health - Metachromatic Leukodystrophy Metachromatic leukodystrophy. Definition Metachromatic leukodystrophy (MLD) is transmittedas an autosomal recessive trait. MLD has a wide range of symptoms. http://www.avera.org/adam/ency/article/001205.htm

Disease Injury Nutrition Poison ... Z Metachromatic leukodystrophy Definition: Metachromatic leukodystrophy is an inherited metabolic storage disease characterized by the absence of the enzyme arylsulfatase A and increased storage of sulfatide. Alternative Names: MLD; Arylsulfatase A deficiency Causes, incidence, and risk factors: Metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait. 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 the most severe form) is the late infant onset form, which has symptoms such as irritability decreased muscle tone muscle wasting , the loss of the ability to walk. Debility is progressive with blindness seizures , and partial paralysis . Death occurs usually before age 10. Both the juvenile and adult forms have later onset but similar symptoms. In the adult and juvenile forms, psychosis and emotional disturbances are an important part of the illness. The juvenile form is fatal within a few years of diagnosis. The adult form may be drawn out over many years. Symptoms: irritability decreased muscle tone abnormal high muscle tone, spasm, abnormal muscle movements

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