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         Adrenoleukodystrophy:     more books (16)
  1. Adrenoleukodystrophy - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-08-23
  2. The Official Parent's Sourcebook on Adrenoleukodystrophy: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-11-18
  3. Adrenoleukodystrophy: Webster's Timeline History, 1976 - 2007 by Icon Group International, 2009-06-06
  4. Adrenoleukodystrophy and Other Peroxisomal Disorders: Clinical, Biomedical, Genetic and Therapeutic Aspects - International Workshop Proceedings (International Congress)
  5. 21st Century Complete Medical Guide to Degenerative Nerve Diseases, Adrenoleukodystrophy, Leukodystrophy, Rett Syndrome, Canavan Disease, Ataxias, Authoritative ... for Patients and Physicians (CD-ROM) by PM Medical Health News, 2004-04-01
  6. Adrenoleukodystrophy: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Karen, MS, CGC Krajewski, Rosalyn, MD Carson-DeWitt, 2005
  7. Gale Encyclopedia of Medicine: Adrenoleukodystrophy by John T. Lohr PhD, 2002-01-01
  8. Leukodystrophies: Adrenoleukodystrophy, Canavan Disease, Pelizaeus-Merzbacher Disease, Metachromatic Leukodystrophy, Krabbe Disease
  9. Adrenoleukodystrophy: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by John, PhD Lohr, 2006
  10. X-Linked Adrenoleukodystrophy - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19
  11. Skin Conditions Resulting From Errors in Metabolism: Phenylketonuria, Adrenoleukodystrophy, Gout, Porphyria, Lafora Disease, Alkaptonuria
  12. Adrenoleukodystrophy: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Karen, MS, CGC Krajewski, 2005
  13. Adrenoleukodystrophy
  14. The Official Parent's Sourcebook on Adrenoleukodystrophy **ISBN: 9780597831072** by Icon Health Publications, 2002-11-01

1. Adrenoleukodystrophy

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2. Adrenoleukodystrophy
adrenoleukodystrophy (ALD) is a rare, genetic disorder. It causes breakdown or loss of the myelin sheath surrounding nerve cells in the brain and progressive dysfunction of the adrenal glands.
http://healthlink.mcw.edu/article/921176192.html
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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. NINDS Adrenoleukodystrophy Information Page
More about adrenoleukodystrophy, Studies with patients, Research literature, Press releases, NINDS adrenoleukodystrophy Information Page Reviewed 0904-2003
http://www.ninds.nih.gov/health_and_medical/disorders/adrenolu_doc.htm
National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health
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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)

4. Adrenoleukodystrophy
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
http://www.ncbi.nlm.nih.gov/disease/ALD.html
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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.

5. The Human And Scientific Story Of Adrenoleukodystrophy
, discussion of treatments, and links.......
http://serendip.brynmawr.edu/bb/neuro/neuro00/web1/Arnaudo.html
This paper was written by a student in a course at Bryn Mawr College, and reflects that student's research and thoughts at the time the paper was written. Like other things on Serendip , the paper is not intended to be "authoritative" but is instead provided to encourage others to themselves learn about and think through subjects of interest, and, by providing relevant web links, to serve as a "window" to help them do so. Web links were active as of the time the paper was posted but are not updated. 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.

6. 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/
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7. ALD Foundation - Education On Adrenoleukodystrophy
The adrenoleukodystrophy Foundation, a nonprofit organization created to educate about ALD. Our motto Care Today for a Cure Tomorrow. Educational Materials.
http://www.aldfoundation.org/
Site Design: NMD, Inc.

8. MedlinePlus Medical Encyclopedia: Adrenoleukodystrophy
adrenoleukodystrophy describes any of several closely related inheritable disorders of the breakdown Return to top. adrenoleukodystrophy is transmitted as an Xlinked trait
http://www.nlm.nih.gov/medlineplus/ency/article/001182.htm
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Medical Encyclopedia
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Adrenoleukodystrophy
Contents of this page:
Illustrations
Neonatal adrenoleukodystrophy Alternative names Return to top X-linked adrenoleukodystrophy; Melanodermic leukodystrophy; Neonatal adrenoleukodyrstophy; NALD Definition Return to top Adrenoleukodystrophy describes any of several closely related inheritable disorders of the breakdown ( metabolism ) of certain fats (long chain fatty acids). These disorders affect the adrenal glands , nervous system, and testes Causes, incidence, and risk factors Return to top Adrenoleukodystrophy is transmitted as an X-linked trait (the neonatal form is by autosomal recessive transmission). It affects approximately 1 in 20,000 to 1 in 50,000 individuals from all races. It results in the accumulation of long chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity. There are several (seven recognized) different forms of the disease. The neonatal form appears shortly after birth and includes seizures and delayed neurological development with death occurring in infancy or young childhood. The childhood cerebral form appears in mid-childhood (at 4-8 years), and the other forms appear during adolescence. About one-third of affected people develop neurological symptoms and about half develop abnormal adrenal function.

9. Adrenoleukodystrophy
adrenoleukodystrophy (ALD) is an xlinked peroxisomal disease afecting males. List of Diseases - adrenoleukodystrophy. adrenoleukodystrophy (ALD) is a rare X-linked disease characterized by
http://www.tylermedicalclinic.com/adrenoleukodystrophy.htm
The Tyler Medical Clinic Assisted Conception - Affordable Infertility Treatments - List of Diseases - Adrenoleukodystrophy Adult-onset ALD, also known as Adrenomyeloneuropathy, is milder and progresses much slower than childhood ALD. Symptoms become apparent around the ages of 21-35 years of age. Lower limbs are primarily affected and may become stiff, weak or completely paralyzed. Patients may also experience loss of coordination. Women who are carriers of ALD may show symptoms but they are usually much less pronounced. There is no cure or treatment to reverse the effects of ALD. Affected individuals undergo physical therapy and counseling and are usually enrolled in special education. Genetic counseling is highly recommended for families with a history of ALD. The form of ALD may be determined through a comprehensive genetic analysis. Those with childhood or adult-onset ALD may take advantage of a new test called Pre-Implantation Genetic Diagnosis (PGD). PGD tests for genetic abnormalities and can determine the sex of an embryo prior to implantation. Through this mechanism, the chances of having an affected child is greatly reduced. Due to complex inheritance patterns of genetic disorders, an experienced genetic counselor can determine whether PGD will be beneficial. PGD can also test for other genetic conditions and is continually being improved to included more genetic diseases. Click here for more information on PGD Click here to learn about other diseases document.write('<');document.write('! ');

10. Adrenoleukodystrophy
a CHORUS notecard document about adrenoleukodystrophy Disclaimer. Feedback. Search. adrenoleukodystrophy. Xlinked recessive
http://chorus.rad.mcw.edu/doc/00014.html
CHORUS Collaborative Hypertext of Radiology Nervous system
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Search
adrenoleukodystrophy
  • X-linked recessive
  • demyelination of cerebral white matter
  • adrenal insufficiency (unresponsive to ACTH)
  • CT: white-matter dz: occipital regions > frontal
    • progression > generalized atrophy
  • MRI: hypointense T1/hyperintense T2, atrophic splenium of corpus callosum
  • NM: increased uptake in involved regions see also: dysmyelinating dz white-matter dz
Charles E. Kahn, Jr., MD - 2 February 1995
Last updated 26 May 2004

Medical College of Wisconsin

11. PEDBASE Adrenoleukodystrophy
Diagnosis and treatment.
http://www.icondata.com/health/pedbase/files/ADRENOLE.HTM

12. Adrenoleukodystrophy
Search. This book All books PubMed. Genes and Disease PDF Document Nutritional and Metabolic Diseases adrenoleukodystrophy adrenoleukodystrophy
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect

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 AltaVista 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
Learn More About It

14. 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 so.
http://www.geneclinics.org/profiles/x-ald/
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15. Adrenoleukodystrophy
adrenoleukodystrophy. What is adrenoleukodystrophy? Symptoms. Causes. Treatments. Helpful Links adrenoleukodystrophy, or ALD, is a description of several diseases that it Leukodystrophy, NALD, Neonatal adrenoleukodystrophy, and XLinked adrenoleukodystrophy. We will be
http://adrenoleukodystrophy.tripod.com/ald
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Adrenoleukodystrophy What is Adrenoleukodystrophy? Symptoms Causes Treatments ... Helpful Links
Adrenoleukodystrophy, or ALD, is a description of several diseases that it "umbrellas," namely Melanodermic Leukodystrophy, NALD, Neonatal Adrenoleukodystrophy, and X-Linked Adrenoleukodystrophy. We will be focusing on the childhood form of ALD, which is most severe. On this home page, we will discuss the symptoms, causes, and treatments of ALD. Also, we have provided a page with links and more information should you desire to research Adrenoleukodystrophy further.

16. Adrenoleukodystrophy; "Lorenzo's Oil" And Teaching
The disease portrayed in the movie is called adrenoleukodystrophy (ALD). Clinical and therapeutic aspects of adrenoleukodystrophy and adrenomyeloneuropathy.
http://carbon.cudenver.edu/~bstith/loren.htm
The use of the movie "Lorenzo's Oil" as a Teaching Tool Bradley J. Stith, Ph.D. Professor , Biology Department, University of Colorado at Denver click here to go back to Dr. Stith's home page This summary is an attempt at explaining the biochemical basis of ALD. In addition, it is an attempt to use the story of the Odone's to inspire students to learn more about cell biology. As today's student is more attuned to visual stimulation and due to the success of case-based learning, I encourage teachers to use the movie "Lorenzo's Oil" (1992, MCA Universal, 2 hrs 18 min; available at video stores or from Critic's Choice at 1800-367-7765 for $20; VHS or DVD) to illustrate many ideas about lipids and principles of cell biology. However, a complete understanding of the movie requires much library research and I provide a summary below. The Disease In the movie, Lorenzo Odone is initially portrayed as a normal, happy, healthy child whose health suddenly declines. Taking place from 1984 to 1987, the parents (Augusto Odone, played by Nick Nolte, and Michaela Odone, played by Susan Sarandon) become involved in a fight to save the life of their son. The Odones train themselves in biology to develop a treatment for their son. The sympathetic portrayal rarely fails to become an indelible memory for my students. In 1996, Phil Collins has recorded a song called "Lorenzo" in his "Dance Into the Light" album. The lyrics were written by Michaela and Lorenzo.

17. Adrenoleukodystrophy And Myelin: Where's The Connection?
Biology 202 1999 Final Web Reports On Serendip adrenoleukodystrophy and Myelin Where s the Connection? Emma KirbyGlatkowski. adrenoleukodystrophy.
http://serendip.brynmawr.edu/bb/neuro/neuro99/web3/Kirbyglatkowski.html
Biology 202
1999 Final Web Reports

On Serendip
Adrenoleukodystrophy and Myelin: Where's the Connection?
Emma Kirby-Glatkowski
Adrenoleukodystrophy. Also known as ALD. Ten years ago many people would not be familiar with this extremely rare childhood disease. But now awareness has increased as a result of the 1992 MCA Universal film, "Lorenzo's Oil". This true story movie shows the struggles of a family whose son is dying from this disease and their fight to try to save him and children like him. After seeing this movie myself I became very interested in ALD and the possible ways to cure or treat it. In the last decade there has been some amazing research done in conjunction with this disease and the few others who, like it, occur as a result from the breakdown or loss of myelin in the brain. The first step in understanding adrenoleukodystrophy is to ask what it is and how it works. According to the fact sheet put out by the National Institute of Health in Bethesda, MD in 1997, "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" . This disorder affects fatty acid metabolism which causes the dysfunction of the adrenal glands, the nervous system, and the testes

18. Introduction To Leukodystrophy
adrenoleukodystrophy (ALD). The term adrenoleukodystrophy encompasses two distinct genetic disorders; Xlinked adrenoleukodystrophy and neonatal ALD.
http://www.ulf.org/ulf/intro/
U NITED L EUKODYSTROPHY F OUNDATION
2304 Highland Drive * Sycamore, Illinois USA 60178 * Phone: (800) 728-5483 * FAX: (815) 895-2432
Introduction to Leukodystrophy
Outlined below are brief introductions to the leukodystrophies. Further extensive in-depth research information is available on these subjects and more through the ULF library of printed and videotape materials. When requesting further information please let us know whether you are a professional or lay-person so that we can respond with the appropriate information level.
Introduction
Patterns of Inheritance
Adrenoleukodystrophy (ALD)/Adrenomyeloneuropathy (AMN)
Aicardi-Goutieres Syndrome ...
Zellweger Syndrome INTRODUCTION The leukodystrophies are genetically determined progressive disorders that affect the brain, spinal cord and peripheral nerves. The term leukodystrophy derives from the Greek words "leuko" meaning white and referring to the white matter of the nervous system and "dystrophy" meaning imperfect growth or development. White matter is white to the naked eye because it contains a complex chemical substance called the myelin sheath. Myelin contains a variety of fatty substances or lipids. Its function is to insulate the axon through which nerve impulses are conducted, much as does insulation around an electric wire; the axon being the biological equivalent of the wire. The myelin sheath is a very complex substance. It is made up of at least ten, and probably more distinct chemicals. Each of the leukodystrophies affects one (and only one) of these substances that all affect the myelin sheath in some way, but otherwise, they are totally separate. Leukodystrophy of one type, does not in any way predispose to, or increase the risk of another type of leukodystrophy.

19. History Of Adrenoleukodystrophy
History of adrenoleukodystrophy. Stephan Kemp, Ph.D. and Paul Watkins, MD, Ph.D. History of adrenoleukodystrophy. The first report
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.

20. Adrenoleukodystrophy (ALD): A Case Study
adrenoleukodystrophy (ALD) A Case Study Using the Film Lorenzo s Oil . Resources. For more information on adrenoleukodystrophy, please contact
http://www.accessexcellence.org/AE/AEPC/WWC/1994/adreno.html
Using the Film "Lorenzo's Oil"
Adrenoleukodystrophy (ALD):
A Case Study Using the Film
"Lorenzo's Oil"
Linda Gostinger
1994 Woodrow Wilson Biology Institute
Introduction
The purpose of this activity is to expose the students to an inherited genetic disorder by viewing the film "Lorenzo's Oil." The students will be able to learn about this rare disease and follow the progression of the disease from the initial diagnosis through the 32 month ordeal that the family endured. They will experience the frustrations and triumphs with the Odone family as they follow the challenges of finding a cure for ALD. The students will observe the scientific method being put into practice. This is a true-life drama which depicts the social, financial, ethical and political ramifications of a little-known genetic disease that doesn't get much attention from doctors nor the research community. This is an interdisciplinary study that could be used on several levels and with a variety of classes, for example: Biology, Chemistry, Genetics, Ethics, Health, Neurology, Nutrition, Pathology, Psychology and Anatomy.
Summary of the Disease
Adrenoleukodystrophy (ALD) is a rare inherited metabolic disorder characterized by the loss of the fatty covering (myelin sheath) on nerve fibers within the brain and progressive degeneration of the adrenal gland. The basic defect is the impaired capacity to degrade very long chain fatty acids that are found in the blood plasma and tissues of the body. These fatty acids accumulate in the brain (cerebral white matter) and the adrenal glands.

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