1. Canavan Foundation :: Prevention Through Education And Testing Notfor-profit foundation providing information about canavan disease, prenatal screening, support, and research. http://www.canavanfoundation.org/

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2. Canavan Research Illinois - Canavan Disease Research - Dedicated To Curing Canav Canavan Research Illinois, a nonprofit organization, was founded by parents dedicated to finding a cure and treatment for canavan disease. http://www.canavanresearch.org/

Based in Illinois...Dedicated to Curing Canavan Disease Canavan Research Illinois [ Home ] Mother's Poems FAQs Mission Menu What Is Canavan Disease About Canavan Research Canavan Gene Therapy Donations ... Contact Us Canavan Research Illinois Dedicated To Curing Canavan Disease www.canavanresearch.org Canavan Research Illinois "On March 6th 1998, we were given the news that no parent ever wants to hear...our son, Max Randell, was diagnosed with Canavan disease." Our beautiful 4½ month old baby boy was dying of Canavan disease, a degenerative brain disease for which there was no cure or treatment. At that point we decided to fight for our dear little Max and all the other children with Canavan disease. We soon learned that there was one chance in the world for our son...experimental research pioneered by parents determined to keep their children and hope alive. Our family joined forces with other families affected by Canavan disease in the hopes that no parent would ever have to hear those words again. We founded Canavan Research Illinois, a public charity, based in Illinois, dedicated to curing Canavan disease. Canavan Research Illinois In the News: Max Randell at 2½ Now six, little Max has represented our battle to save the childhood victims of Canavan disease on Dateline NBC, Leeza, Montel, Philadelphia Inquirer, Washington Post, and the Chicago Tribune.

3. The NTSAD Diseases Family: Canavan Disease canavan disease (CD) IS NAMED for Myrtelle Canavan, who first described canavan disease, like TaySachs, is inherited as an autosomal recessive trait. http://www.ntsad.org/pages/canavan.htm

Canavan Disease CANAVAN DISEASE (CD) IS NAMED for Myrtelle Canavan, who first described the disorder in 1931. Since that time, much has been learned about the genetic and biochemical bases of the disease. Recent developments in the understanding of the genetic defect involved in Canavan Disease have increased not only the ability to diagnose CD accurately, but also the accuracy of carrier screening and prenatal detection for at-risk families. C linical signs in an individual with CD usually begin during infancy: parents may begin to notice subtle changes, such as visual inattentiveness or an inability to perform motor tasks, at around three to nine months. One of the earliest signs of CD recognized by many parents is overall low muscle tone and lack of head control. As the child grows, motor skills and mental functioning deteriorate. The child eventually becomes blind, but hearing remains sharp. Affected children continue to recognize and respond to the voices of their primary caregivers. Difficulties which arise as the child grows include stiffness, weakness of the muscles, seizures, and feeding problems. I t is not possible to describe all children with CD in the same way, since the presentation and progression of illness varies from child to child. Although many children with CD die in infancy, some survive into adolescence and even occasionally into adulthood.

4. 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

5. Canavan Disease Information Page National Institute Of canavan disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Canavan Foundation :: What Is Canavan Disease? The Canavan Foundation is a notfor-profit organization that was founded in 1992 by the parents and friends of children affected by the canavan disease. http://www.canavanfoundation.org/canavan.php

What is Canavan disease? Glossary Canavan disease (CD) is a relatively rare, but always fatal, inherited, degenerative brain disorder that primarily affects children of eastern and central European Jewish ( Ashkenazi ) descent, which includes about 90 percent of the Jews in America. It is estimated that one in 40 Ashkenazi Jews is a carrier of the Canavan gene. The disorder was named for Myrtelle Canavan, the researcher who first described the disease in 1931. Currently, there is no cure for the disease, which usually becomes apparent when the infant is three to nine months old. Symptoms vary, but generally include rapidly increasing head circumference, lack of head control, reduced visual responsiveness and abnormal muscle tone such as stiffness or floppiness. Symptoms Rapidly increasing head circumference Lack of head control Reduced visual responsiveness Abnormal muscle tone Children with Canavan disease cannot crawl, walk, sit or talk. Over time they may suffer seizures, become paralyzed, mentally retarded or blind and have trouble swallowing. Although hearing usually remains a functioning sense, deafness may also result. Most children do not live past age 10. Canavan disease, like the more well-known Tay-Sachs disease, is one of a number of genetic disorders affecting Ashkenazi Jews at high frequency.

7. Canavan Foundation Prevention Through Education And Testing Notfor-profit foundation providing information about canavan disease, prenatal screening, support, and research. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Tests And Indications Information about a test for seven common inherited diseases in the Ashkenazi Jewish population TaySachs disease, canavan disease, cystic fibrosis, Gaucher disease, Bloom syndrome, familial dysautonomia and Fanconi anemia. http://cfar-www.med.nyu.edu/genetics/lab/ashkenazi_screen.html

NYU Medical Center Home NYU School of Medicine Home Research Home Administration ... Calendars Tests and Indications Cystic Fibrosis Cystic fibrosis is the most common genetic disorder among Caucasians (1:29) and is less common among other ethnic groups (see table below). The American College of Medical Genetics (ACMG) recommends that CF screening be offered to couples considering starting a family and recommends the mutation panel listed below for all ethnicities. The detection rate differs with ethnic origin and is shown along with after testing residual risk estimates in the table below. Mutations Analyzed: 621+1G->T 1717-1G->A 711+1G->T 1898+1G->A 3849+10kbC->T 2789+5G->A 3120+1G->A This test distinguishes the F508C, I507V, and I506V polymorphisms and the poly T allele is reported where clinically significant. Sensitivity and Estimated Carrier Risk: Estimated Carrier Risk Ethnic Group Detection Rate Before Test After Test Ashkenazi Jewish ~1 in 930 European Caucasian ~1 in 140 African American ~1 in 207 Hispanic American ~1 in 105 Asian American ND ND Ashkenazi Jewish Genetic Disease Screening A video entitled: "The Importance of Genetic Screening for Ashkenazi Jewish People" is available on our website and may be shared with your patients.

9. Canavan Foundation What Is Canavan Disease? What is canavan disease? Glossary http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Canavan Disease canavan disease is a genelinked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue riddled with microscopic http://healthlink.mcw.edu/article/921391101.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Children's Health Genetics Neurology Brain/Nervous System By keywords: leukodystrophy demyelination Canavan disease genetic testing Receive Health Link via email! Subscribe now >> Canavan Disease Canavan disease, one of the most common cerebral degenerative diseases of infancy, is a gene-linked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. The disorder was named for Myrtelle Canavan, the researcher who first described the disease in 1931. Canavan disease (CD) belongs to a group of conditions known as leukodystrophies, which result from defects in myelin. Myelin, a substance made up of proteins and lipids, is an integral component of the nervous system. It is commonly known as the "white matter" in the brain; its function is to protect nerves and allow messages to be sent to and from the brain. In Canavan disease, the white matter deteriorates because patients have a deficiency in the enzyme aspartoacylase, which leads to the accumulation of another chemical, called N-acetyl-aspartic acid (NAA). It is not known exactly how these chemical imbalances cause the destruction of myelin.

11. NINDS Forwarding Page Information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/health_and_medical/disorders/canavn_doc.htm

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12. GeneReviews Canavan Disease Your browser does not support HTML frames so you must view canavan disease in a slightly less readable form. Please follow this link to do so. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. GeneReviews: Canavan Disease Your browser does not support HTML frames so you must view canavan disease in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/canavan/

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14. Canavan Research Foundation Home canavan disease Our Story Screening Other Diseases Contribute Web Board http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Canavan Disease Information Page: National Institute Of Neurological Disorders A canavan disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/canavan/canavan.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 Canavan Disease 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 Canavan NINDS Canavan Disease 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 Canavan Disease? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Canavan Disease? Canavan disease, one of the most common cerebral degenerative diseases of infancy, is a gene-linked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Canavan disease is one of a group of genetic disorders known as the leukodystrophies. These diseases cause imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers in the brain. Myelin, which lends its color to the "white matter" of the brain, is a complex substance made up of at least ten different chemicals. Each of the leukodystrophies affects one (and only one) of these substances. Canavan disease is caused by mutations in the gene for an enzyme called

16. Parents' Needed For 'orphan' Diseases include Gaucher's disease (which is already treatable) and stillincurable ones such as Tay-Sachs, familial dysautonomia, Canavan's disease http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. The NTSAD Diseases Family Canavan Disease canavan disease http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Canavan Research Foundation canavan disease is a leukodystrophy one of a spectrum of devastating Like many other identified leukodystrophies, canavan disease interferes with the http://www.canavan.org/canavan.htm

What is Canavan Disease? Canavan disease is a leukodystrophy - one of a spectrum of devastating neurological disorders in which the brain deteriorates due to a defective inherited gene. Like many other identified leukodystrophies, Canavan Disease interferes with the body's normal production of myelin. This fatty membrane, the central nervous system's "white matter", forms a protective coating around every nerve in the brain and spinal cord, to ensure that nerve impulses are properly transmitted from one part of the body to another. The elements of N-acetylaspartate acid, or NAA, a naturally-occurring compound in the brain, are thought to be instrumental in building myelin. Normally an enzyme, aspartoacyclase, breaks NAA down into the building blocks needed. In those afflicted with Canavan Disease, however, a gene mutation prevents production of this enzyme. NAA accumulates to dangerous levels, and the brain's communications network is seriously impaired. This leaves Canavan children incapable of performing the simplest functions. Even if they live to their full life expectancy - three to ten years - they become blind, paralyzed, prone to seizures...and increasingly lost to the world around them. Who Is At Risk?

19. Canavan Research Illinois - Canavan Disease Research - Dedicated Canavan Research Illinois, a nonprofit organization, was founded by parents dedicated to finding a cure and treatment for canavan disease http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. National Tay-Sachs Allied Diseases Association Of Delaware site by DesertElements.com http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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