1. Adrenoleukodystrophy http://home.merlin.mb.ca/~sradley/

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2. 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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3. 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

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.

4. NINDS Adrenoleukodystrophy Information Page More about adrenoleukodystrophy, Studies with patients, Research literature, Pressreleases, NINDS adrenoleukodystrophy Information Page Reviewed 1102-2001 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 organizations 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 NINDS Adrenoleukodystrophy Information Page Reviewed 11-02-2001 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? Is there any treatment? Bone marrow transplantation is effective early in the course of the childhood form. Physical and psychological therapy is important in all forms of ALD. What is the prognosis? Prognosis for patients with ALD is generally poor except after successful bone marrow transplantation. Death may occur within 1 to 10 years after the onset of symptoms due to disease progression. What research is being done?

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

Pediatric Database (PEDBASE) Discipline: MET Last Updated: 7/25/94 ADRENOLEUKODYSTROPHY DEFINITION: A disorder of peroxisomes transmitted as a X-linked trait characterized by the accumulation of saturated very long chain fatty acids (VLCFA) resulting in the progressive dysfunction of CNS white matter and the adrenal cortex. EPIDEMIOLOGY: incidence: 1/100,000 age of onset: 4 to 8 years of age risk factors: familial - x-linked recessive chrom. #: Xq28 (terminal segment) gene: ? lignoceroyl-CoA ligase (peroxisomal enzyme) PATHOGENESIS/PATHOLOGY: 1. Peroxisomes 1. Structure intracellular organelles present in all cells except mature erythrocytes, especially in those that specialize in lipid metabolism abundant in: neurons during the first two postnatal weeks oligodendroglial processes forming myelin shealths during active myelination 2. Function contain enzymes (40) necessary for cellular metabolism enzymes catalyzing the beta-oxidation of VLCFA enzymes catalyzing the synthesis of plasmalogen decomposition of hydrogen peroxide (catalase) 2. X-linked Adrenoleudodystrophy

6. 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.

7. GeneReviews: Adrenoleukodystrophy, X-Linked a CHORUS notecard document about adrenoleukodystrophy Disclaimer. Feedback. Search. adrenoleukodystrophy. Xlinked recessive http://www.geneclinics.org/profiles/x-ald

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8. ALD Foundation - Education On Adrenoleukodystrophy 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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9. NINDS Adrenoleukodystrophy Information Page More about adrenoleukodystrophy, Studies with patients, Research literature,Press releases, Disclaimer, Search NINDS (help). Contact us, My privacy http://www.ninds.nih.gov/health_and_medical/disorders/adrenolu_doc.htm#What_is_A

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 organizations 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 NINDS Adrenoleukodystrophy Information Page Reviewed 11-02-2001 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? Is there any treatment? Bone marrow transplantation is effective early in the course of the childhood form. Physical and psychological therapy is important in all forms of ALD. What is the prognosis? Prognosis for patients with ALD is generally poor except after successful bone marrow transplantation. Death may occur within 1 to 10 years after the onset of symptoms due to disease progression. What research is being done?

10. Adrenoleukodystrophy adrenoleukodystrophy (ALD) is a rare, inherited metabolic disorder that afflictsthe young boy Lorenzo Odone, whose story is told in the 1993 film 'Lorenzo's 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.

11. Entrez-PubMed Xlinked adrenoleukodystrophy genes, mutations, and phenotypes. Publication TypesReview; Review, Tutorial. MeSH Terms adrenoleukodystrophy/genetics*; http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

12. 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 ULF List of Online Discussion Groups Krabbes E-mail Contacts Inborn Errors of Metabolism Discussion Groups Learn More About It Adrenoleukodystrophy From PEDBASE Alexander Disease From Online Mendelian Inheritance in Man (OMIM) Canavan Disease From Online Mendelian Inheritance in Man (OMIM) Canavan's Disease From PEDBASE Krabbe Disease From Online Mendelian Inheritance in Man (OMIM) Krabbes Disease: Basic Information From the Krabbes Disease Homepage Metachromatic Leukodystrophy From PEDBASE

13. Facts On X-Linked Adrenoleukodystrophy (X-ALD) Facts on XLinked adrenoleukodystrophy (X-ALD). Stephan Kemp, Ph.Dand Hugo Moser, MD. DEFINITION adrenoleukodystrophy (X-ALD) is http://www.x-ald.nl/facts.htm

Facts on X-Linked Adrenoleukodystrophy (X-ALD) Stephan Kemp, Ph.D and Hugo Moser, M.D. DEFINITION: Adrenoleukodystrophy (X-ALD) is a serious progressive, genetic disorder, which affects the adrenal glands and the white matter of the nervous system. It was first recognized in 1923 and has been known as Schilder's disease and sudanophilic leukodystrophy. In 1971, Dr. Michael Blaw coined the name adrenoleukodystrophy; adreno refers to the adrenal glands; leuko refers to the white matter of the brain, and dystrophy means imperfect growth or development. BIOCHEMISTRY: follow this link. Figure 1 Photo of a human skin cell. The cell is stained with a dye that recognizes peroxisomes, they are indicated as the small white dots. In a normal situation, VLCFAs are degraded in peroxisomes. In X-ALD, however, the VLCFAs can not enter the peroxisomes and their concentration builds up in the cell. EPIDEMIOLOGY: X-ALD has been found in many races and various ethnic groups in many countries around the world and is not indigenous to any particular group of people. GENETICS: X-ALD is an X-linked disorder, which means it affects only males and is transmitted by a female carrier. Such disorders are referred to as "X-linked" since the genetic abnormality involves the X-chromosome. Women have two X-chromosomes, men only one. In women, the affected X-chromosome, the one with the gene for X-ALD (Figure 2, red chromosome), does not manifest because of the presence of a normal copy of the gene (black chromosome) on the other X-chromosome. Men have one X-chromosome and one Y-chromosome. In men who have an X- chromosome for X-ALD, there is no other X- chromosome for protection, therefore symptoms may be seen in the male.

14. Adrenoleukodystrophy adrenoleukodystrophy. adrenoleukodystrophy (ALD) is an Xlinked progressivegenetic disorder characterized by demyelination of nerves http://home.merlin.mb.ca/~sradley/page2.html

Adrenoleukodystrophy Adrenoleukodystrophy (ALD) is an X-linked progressive genetic disorder characterized by demyelination of nerves in the brain and/or spinal cord. Demyelination is the process by which the myelin (the insulation around a nerve) breaks down. This demyelination is caused by the inability of the body to break down very-long-chain-fatty acids (VLCFA). The accumulation of the VLCFA causes the degradation of the myelin. Once the myelin is gone, the nerve "short-circuits." There are three main ways the disorder presents (and no way of knowing which way the disorder will present). Based on current research there is about a fifty percent chance the disorder will present cerebrally. This means that as the brain tissue breaks down, the child gradually loses function and dies (generally within three years of the disorder presenting itself (the child becoming sympomatic)). Most cases of this form of the disorder present before the child reaches the age of twelve. Several treatments are available and are still in the experimental stage: 1) dietary; Lorenzo's Oil and a very low fat diet

15. Adrenoleukodystrophy; "Lorenzo's Oil" And Teaching The disease portrayed in the movie is called adrenoleukodystrophy (ALD). Clinicaland 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 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) to illustrate many Biological principles. However, a complete understanding of the movie requires much library research. 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. Recently, Phil Collins has recorded a song called "Lorenzo" in his "Dance Into the Light" album. The lyrics were written by Michaela and Lorenzo.

16. Adrenoleukodystrophy And Myelin: Where's The Connection? Biology 202 1999 Final Web Reports On Serendip. adrenoleukodystrophy and MyelinWhere'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

17. Adrenoleukodystrophy adrenoleukodystrophy. Xlinked recessive. demyelination of cerebralwhite matter; adrenal insufficiency (unresponsive to ACTH). CT white http://chorus.rad.mcw.edu/doc/00014.html

CHORUS Collaborative Hypertext of Radiology Nervous system Feedback 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 14 March 2001 Medical College of Wisconsin

18. ALD Foundation - Education On Adrenoleukodystrophy What Is adrenoleukodystrophy? adrenoleukodystrophy (ALD) is an geneticallydetermined neurodegenerative disease that can become http://www.aldfoundation.org/materials.html

What Is Adrenoleukodystrophy? Adrenoleukodystrophy (ALD) is an genetically determined neurodegenerative disease that can become active at any point in a boy's life.Pediatric onset occurs typically between the ages of 4 and 10 years. It affects the brain with active demyelination. Demyelination is the stripping away of the myelin sheath which acts as insulation for the nerves. This process is an inflammatory response that destroys the nerve cells. In ALD, boys develop normally until after early symptoms that are often mistaken for attention deficit disorder, there appear to be signs of serious neurological involvement. Impaired auditory discrimination, visual disturbances, impaired coordination, dementia or seizures. These symptoms may progress rapidly and may lead to a vegetative state within two years and death anytime thereafter. If the gene does not become active until adulthood, the disease is known as Adrenomyeloneuropathy. (AMN) In the adult males that experience AMN, demyelination occurs in the long tracts of the spinal column causing increasing difficulty with walking, as well as bladder and bowel disturbances. In approximately half of the men who develop AMN the brain may also become involved.

19. MEDLINEplus Medical Encyclopedia: Adrenoleukodystrophy adrenoleukodystrophy. Alternative names Return to top Xlinked adrenoleukodystrophy;Melanodermic leukodystrophy; Neonatal adrenoleukodyrstophy; NALD. http://www.nlm.nih.gov/medlineplus/ency/article/001182.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Adrenoleukodystrophy Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention 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 acid) that affects 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). Its incidence is estimated at 1 out of 20,000 to 1 in 50,000 and affects all races. The metabolic defect is the accumulation of long chain fatty acids in the nervous system, adrenal gland, and testes , where the accumulated material 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 (around 4-8 years) appears in mid-childhood, and the other forms appear during

20. MEDLINEplus Medical Encyclopedia: Neonatal Adrenoleukodystrophy Medical Encyclopedia. Neonatal adrenoleukodystrophy. NALD is an inheritabledisorder that affects the adrenal glands, the white matter http://www.nlm.nih.gov/medlineplus/ency/imagepages/17277.htm

Skip navigation Medical Encyclopedia Neonatal adrenoleukodystrophy NALD is an inheritable disorder that affects the adrenal glands, the white matter of the brain and the testes. Some of the symptoms for this disorder include seizures, hyperactivity, crossed eyes, paralysis, hearing loss, and muscular weakness. Health Topics Drug Information Encyclopedia Dictionary ... National Institutes of Health Page last updated: 10 January 2003

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