1. X-linked Adrenoleukodystrophy Database Catalogue and facilitate the analysis of XALD mutations and provide background information. Includes the structure of the ABCD1 gene and its gene sequence. http://www.x-ald.nl/

X-linked Adrenoleukodystrophy Database This database was started as a cooperation between the Peroxisomal Diseases Laboratory at the Kennedy Krieger Institute, Baltimore MD, USA and the Laboratory Genetic Metabolic Diseases at the Academic Medical Center / Emma Children's Hospital, Amsterdam, the Netherlands. The primary aims of our database are 1) catalogue and facilitate the analysis of X-ALD mutations, and 2) provide background information on X-ALD. There are currently mutations in the database. unique mutations have been identified in the gene. June 30 2005: three new pages have been added to the database on: Clinical form of X-ALD Diagnosis of X-ALD Genetics, Mode of Inheritance and Genetic Counseling This database was initiated July 1999 by Hugo W. Moser, M.D. and Stephan Kemp, Ph.D. (database editor) with support of the John Hirschbeck Memorial Fund We thank Eline Görtz for technical support. First version 11/22/1999, last update on

2. Adrenoleukodystrophy Information sheet from the Medical College of Wisconsion about adrenoleukodystrophy. http://healthlink.mcw.edu/article/921176192.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: By keywords: Receive Health Link via email! Subscribe now >> Adrenoleukodystrophy What is Adrenoleukodystrophy? Adrenoleukodystrophy (ALD) is a rare, genetic disorder characterized by the breakdown or loss of the myelin sheath surrounding nerve cells in the brain and progressive dysfunction of the adrenal gland. ALD is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain. There are several forms of ALD. Onset of the classic childhood form, which is the most severe and affects only boys, may occur between ages 4 and 10. Features of this form may include visual loss, learning disabilities, seizures, dysarthria (poorly articulated speech), dysphagia (difficulty swallowing), deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, melanoderma (increased skin pigmentation), and progressive dementia. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. In the milder adult-onset form, which typically begins between ages 21 and 35, symptoms may include leg stiffness, progressive spastic paraparesis (stiffness, weakness and/or paralysis) of the lower extremities, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function.

3. The Human And Scientific Story Of Adrenoleukodystrophy , discussion of treatments, and links....... http://serendip.brynmawr.edu/bb/neuro/neuro00/web1/Arnaudo.html

This paper reflects the research and thoughts of a student at the time the paper was written for a course at Bryn Mawr College. Like other materials on Serendip , it is not intended to be "authoritative" but rather to help others further develop their own explorations. Web links were active as of the time the paper was posted but are not updated Contribute Thoughts Search Serendip for Other Papers Serendip Home Page Biology 202 ... 2000 First Web Report On Serendip The Human and Scientific Story of Adrenoleukodystrophy Anna Arnaudo At the age of five, a normally happy, well-behaved Lorenzo Odone began to have problems focusing in school and controlling his emotions. Testing revealed that Lorenzo had childhood cerebral x-linked adrenoleukodystrophy (ALD), a rare, basically ignored genetic demyelinating disease that shows symptoms between the ages 5 and 12 . A diagnosis of ALD was equivalent to a death sentence; typically death ensued within a few years . Lorenzo's parents, Michaela and Augusto, were not willing to lose their son without a fight. They began to investigate the disease on their own and worked towards bringing demyelinating diseases to the forefront of scientific research. ALD is one of eight leukodystrophies, inheritable metabolic diseases that lead to the destruction of myelin. The disorder is a recessive X-linked genetic mutation, meaning that the trait is carried on the X chromosome. As a result of X-linkage, the disease only affects males. Affected men do not live long enough to pass the gene on to their offspring. Since females pass on the sole X chromosome obtained by male offspring, the trait has to be inherited from the mother. The single gene mutation responsible for this disease is found at locus Xq28

4. The Adrenoleukodystrophy Foundation: Information And Research On ALD, AMN And Ad A nonprofit organization created to educate about ALD by providing educational materials and links to information associated with the disease. http://www.aldfoundation.org/

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5. Adrenoleukodystrophy Offers a summary of the disorder, possible treatments and links. http://home.merlin.mb.ca/~sradley

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6. Adrenoleukodystrophy Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), http://www.ncbi.nlm.nih.gov/disease/ALD.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View ALD on the X chromosome Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information Fact Sheet on ALD from The National Institute of Neurological Disorders and Stroke, NIH GeneClinics a medical genetics resource ADRENOLEUKODYSTROPHY (ALD) is a rare, inherited metabolic disorder that afflicts the young boy Lorenzo Odone, whose story is told in the 1993 film 'Lorenzo's oil'. In this disease the fatty covering (myelin sheath) on nerve fibers in the brain is lost, and the adrenal gland degenerates, leading to progressive neurological disability and death. People with ALD accumulate high levels of saturated, very long chain fatty acids in their brain and adrenal cortex because the fatty acids are not broken down by an enzyme in the normal manner. So, when the ALD gene was discovered in 1993, it was a surprise that the corresponding protein was in fact a member of a family of transporter proteins, not an enzyme. It is still a mystery as to how the transporter effects the function the fatty acid enzyme, and for that matter, how high levels of very long chain fatty acids cause the loss of myelin on nerve fibers. More recently, all the transporters related to ALD protein have been found in the yeast Saccharomyces cerevisiae, and a mouse model for the human disease has been developed. These and other molecular biology approaches should further our understanding of ALD and hasten our progress towards effective therapies.

7. Adrenoleukodystrophy Information Page National Institute Of Information sheet on adrenoleukodystrophy compiled by NINDS. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Adrenoleukodystrophy adrenoleukodystrophy adrenoleukodystrophy (ALD) is a rare, inherited metabolic disorder that afflicts the young boy Lorenzo Odone, whose story is told in http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect

9. Adrenoleukodystrophy; "Lorenzo's Oil" And Teaching The lyrics were written by Michaela and Lorenzo. The disease portrayed in the movie is called adrenoleukodystrophy (ALD). http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. GeneReviews: Adrenoleukodystrophy, X-Linked Your browser does not support HTML frames so you must view adrenoleukodystrophy, XLinked in a slightly less readable form. Please follow this link to do http://www.geneclinics.org/profiles/x-ald/

Your browser does not support HTML frames so you must view Adrenoleukodystrophy, X-Linked in a slightly less readable form. Please follow this link to do so.

11. X-linked Adrenoleukodystrophy Database This database has been initiated to collect data on mutations found in the gene (ABCD1) responsible for Xlinked adrenoleukodystrophy. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. X-Linked Adrenoleukodystrophy Molecular Genetics of adrenoleukodystrophy, XLinked Aubourg P and Chaussain JL (2003) adrenoleukodystrophy the most frequent genetic cause of http://www.geneclinics.org/profiles/x-ald/details.html

X-Linked Adrenoleukodystrophy X-ALD. Includes: Adrenomyeloneuropathy (AMN)] Authors: Hugo W Moser, MD Ann B Moser, BA Steven J Steinberg, PhD About the Authors / Author History Initial Posting: 26 March 1999 Last Update 15 April 2004 Summary Disease characteristics. X-ALD is a disorder that affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in males. The childhood cerebral form manifests most commonly between ages four and eight years. It initially resembles attention deficit disorder; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within two years. The second phenotype , adrenomyeloneuropathy (AMN), manifests most commonly in the late twenties as progressive paraparesis, sphincter disturbances, and varying degrees of distal sensory loss; it progresses slowly over decades. The third phenotype , "Addison disease only," presents with primary adrenocortical insufficiency between two years of age and adulthood and most commonly by 7 1/2 years of age, without evidence of neurological abnormality; however, some degree of neurological disability (most commonly AMN) usually develops later. Approximately 20% of females who are carriers develop neurological manifestations that resemble adrenomyeloneuropathy, but have later onset (35 years or later) and milder disease than do

13. The Family Village / Library / Leukodystrophy Resources on adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease. http://www.familyvillage.wisc.edu/lib_leukodystrophy.html

Leukodystrophy Types of Leukodystophy: Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Leukodystrophy" Who to Contact United Leukodystrophy Foundation (ULF) 2304 Highland Drive Sycamore IL 60718 (815) 895-2432 (fax) E-mail: ulf@tbcnet.com Website: http://www.ulf.org/ This is a nonprofit, voluntary health organization dedicated to providing patients and their families with information about their disease. In addition, it provides assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness; acting as an information source for health care providers; and promoting and supporting research into causes, treatments, and prevention of the leukodystrophies. The ULF is supported solely by donations. Where to Go to Chat with Others Yahoo list of leukodystrophy discussion groups Krabbes E-mail Contacts Inborn Errors of Metabolism Discussion Group MLD Support Learn More About It Alexander Disease From Online Mendelian Inheritance in Man (OMIM) Canavan Disease From Online Mendelian Inheritance in Man (OMIM) Krabbe Disease From Online Mendelian Inheritance in Man (OMIM) Krabbes Disease: Basic Information From the Krabbes Disease Homepage Metachromatic Leukodystrophy, Late Infantile

14. The Stop ALD Foundation MediView Report! Read the MediView Report, Avoiding the Misdiagnosis of adrenoleukodystrophy Distinguishing ALD from ADD/ADHD. Update! http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. The Human And Scientific Story Of Adrenoleukodystrophy The Human and Scientific Story of adrenoleukodystrophy http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. History Of Adrenoleukodystrophy History of adrenoleukodystrophy. The first report of a patient with Xchromosomal The name adrenoleukodystrophy was introduced by Michael Blaw in 1970. http://www.x-ald.nl/history.htm

History of adrenoleukodystrophy Stephan Kemp, Ph.D. and Paul Watkins, M.D., Ph.D. History of Adrenoleukodystrophy The first report of a patient with X-chromosomal linked adrenoleukodystrophy (X-ALD) was published in the medical literature in 1923. Siemerling and Creutzfeldt described a 7 year old boy who had developed a bronzed skin (hyperpigmentation) at the age of four years. His skin quickly became deeply pigmented and at the age of 6 1/2 years he became disturbed, and his speech and gait deteriorated which indicated a severe neurological dysfunction. He became spastic, unable to walk or swallow, and he died at the age of seven years. Postmortem examination revealed atrophy of the adrenal cortex and extensive changes in brain white matter, combined with perivascular accumulation of lymphocytes and plasma cells in the nervous system, indicating an inflammatory response. The name adrenoleukodystrophy was introduced by Michael Blaw in 1970. The key to all subsequent knowledge about the disease was the observation made by Powers, Schaumburg, and Johnson that adrenal cells of ALD patients contained characteristic lipid inclusions (fat droplets), followed by the demonstration that these fat droplets consisted of cholesterol esters that contained a striking and characteristic excess of very long-chain fatty acids (VLCFA). Identification of this biochemical characteristic led to the development of assays capable of demonstrating more subtle increases in VLCFA levels in cultured skin cells (fibroblasts), plasma, red blood cells and amniocytes. These techniques have permitted precise postnatal and prenatal diagnosis, the facilitation of genetic studies and gene mapping and the evaluation of therapeutic approaches. Metabolic studies have demonstrated that VLCFA are metabolized (through beta-oxidation) exclusively in subcellular organelles called peroxisomes (see later). Therefore, X-ALD is a peroxisomal disease. Prior to their metabolism, VLCFA must be activated to VLCFA-CoA. The enzyme that performs this reaction is called the very long-chain fatty acyl-CoA synthetase (VLCS). Because the reaction of VLCFA to VLCFA-CoA is diminished in peroxisomes of X-ALD patients, it was hypothesized that genetic changes (mutations) in the VLCS gene are responsible for X-ALD.

17. Adrenoleukodystrophy Information sheet from the Medical College of Wisconsion about adrenoleukodystrophy. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. The Myelin Project Home Followup of 89 Asymptomatic Patients With adrenoleukodystrophy Treated With Lorenzo s Oil. The Myelin Project 2004 Year-End Report is out.. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Adrenoleukodystrophy Information Page: National Institute Of Neurological Disord Information sheet on adrenoleukodystrophy compiled by NINDS. http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Adrenoleukodystrophy Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Adrenoleukodystrophy NINDS Adrenoleukodystrophy 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 Adrenoleukodystrophy? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Adrenoleukodystrophy? Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. People with ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex because they do not produce the enzyme that breaks down these fatty acids in the normal manner. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of ALD. ALD has two subtypes. The most common is the X-linked form (X-ALD)

20. GeneReviews Adrenoleukodystrophy, X-Linked Your browser does not support HTML frames so you must view adrenoleukodystrophy, XLinked in a slightly less readable form. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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