1. Canavan Foundation :: Prevention Through Education And Testing 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. The Canavan Foundation Annual Theater Benefit featuring "Caroline or Change" is set for May 20 in New York http://www.canavanfoundation.org/

The Canavan Foundation Annual Theater Benefit featuring "Caroline or Change" is set for May 20 in New York. For more info, please email us. site by DesertElements.com

2. NINDS Canavan Disease Information Page canavan disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). More about canavan disease, http://www.ninds.nih.gov/health_and_medical/disorders/canavn_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 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 NINDS Canavan Disease Information Page Reviewed 12-01-2003 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 aspartoacylase

3. Canavan Research Illinois - Canavan Disease Research - Dedicated To Curing Canav Canavan Research Illinois, a non profit 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.

4. The NTSAD Diseases Family: Canavan Disease 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. the genetic defect involved in canavan disease have increased not only the 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.

5. Canavan Disease - Information And Support Resources canavan disease Overview, Screening, Testing, and Support Resources Incidence Among People of Jewish Heritage. canavan disease is most common in Ashkenazi Jews If both parents, carriers for http://www.mazornet.com/genetics/canavan.asp

Jewish Genetic Diseases A Mazornet Guide VISIT MazorNet's other Jewish Guides The MazorNet-Jewish Celebrations Kosher Restaurant Guide The MazorNet- Jewish Celebrations Vendor Directory ( ... Photographers, Kosher Caterers, Bridal Gowns, and Much More) Important Information Home Page Genetic Counseling and Screening Genetic Screening Laboratories - A Directory A Brief Key to Basic Genetic ... s Select Disorder Bloom's Syndrome Breast and Ovarian Cancers Breast Cancers - Prevention and Resources Canavan Disease ... Ulcerative Colitis Recommended Reeading Genetic Diversity Among Jews - Diseases and Markers at the DNA Level Provides an authoritative, up-to-date account of the impact of molecular genetics on our understanding of genetic diseases prevalent among Jews. Jewish Genetic Disorders : A Layman's Guide Guide to genetic disorders that tend to affect the Jewish population more than the non-Jewish, including a short history of the Jews and basic facts concerning genetics and genetic disorders. Interactive Jewish Genetic Diseases Boards Canavan Disease Canavan is an inherited disease which is due to lack of substance in the body called aspartoacylase (ASPA). It is a type of enzyme normally found in the part of the brain where nerve impulses are sent to other parts of the brain and the spinal cord. ASPA breaks down NAA into 2 smaller compounds. When ASPA is missing NAA builds up and causes brain damage, mental retardation, large head size tremors and inability to move muscles

6. The Facts About 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 >> The Facts about 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.

7. Canavan Disease canavan disease is a rare, autosomal recessive inherited, neurological disorder, classified as a The symptoms of canavan disease appear in early infancy and progress rapidly http://www.thedoctorsdoctor.com/diseases/canavan_disease.htm

Background Canavan disease is a rare, autosomal recessive inherited, neurological disorder, classified as a leukodystrophy. The underlying genetic defect is an enzyme defect of aspartoacyclase. This enzyme normally breaks down N-acetylaspartate acid, or NAA, into the building blocks of myelin, the fatty membrane that surrounds nerves. With loss of this enzyme, the NAA builds up in the cells, impairing the normal function of the nervous system. With time, the brain has a characteristic spongy degeneration. The symptoms of Canavan disease appear in early infancy and progress rapidly. These symptoms include mental retardation, feeding difficulties, abnormal muscle tone, poor head control, and abnormally enlarged head. With time, paralysis, blindness, or hearing loss may occur. OUTLINE Epidemiology Pathogenesis Laboratory/Radiologic/Other Diagnostic Testing Gross Appearance and Clinical Variants ... Internet Links EPIDEMIOLOGY CHARACTERIZATION SYNONYMS Van Bogaert-Bertrand INCIDENCE Very rare AGE RANGE-MEDIAN Birth GEOGRAPHY Eastern European Jewish Canavan disease prenatal diagnosis and genetic counseling.

8. MedlinePlus Medical Encyclopedia: Canavan Disease Return to top. canavan disease is an inherited disorder of aspartic acid metabolism A family history of canavan disease. Decreased muscle tone http://www.nlm.nih.gov/medlineplus/ency/article/001586.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Canavan disease Contents of this page: Alternative names Definition Causes, incidence, and risk factors Symptoms ... Prevention Alternative names Spongy degeneration of the brain; Aspartoacylase deficiency Definition Return to top Canavan disease is an inherited disorder of aspartic acid metabolism. It is characterized by degeneration of the white matter of the brain Causes, incidence, and risk factors Return to top Canavan disease is inherited as an autosomal recessive trait. It is more common among Ashkenazi Jews than in the general population. A deficient enzyme , aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain. This causes a degeneration of the white matter. Typically, symptoms begin in the first year of life with loss of developmental milestones and death before 18 months of age. Symptoms Return to top A family history of Canavan disease Decreased muscle tone (hypotonia), especially of the neck muscles

9. 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

10. 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/

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.

11. Ashkenazi Jewish Genetic Disease Screen 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

DEPARTMENTS DIRECTORY ADVANCED SEARCH SCHOOL HOME ... Specimen Requirements Molecular Genetics Testing Laboratory Ashkenazi Jewish Genetic Disease Screen The Importance of Genetic Screening for Ashkenazi Jewish People. See the video: Genetic Screening Video real player needed The Ashkenazi Jewish Genetic Disease Screen tests for seven common inherited diseases in the Ashkenazi Jewish population: Tay-Sachs disease, Canavan disease, cystic fibrosis, Gaucher disease Bloom syndrome , Familial dysautonomia and Fanconi anemia. Among Ashkenazi Jews, the carrier frequencies and disease incidences for each of these has been estimated to be 1:25 and 1:3000 for Tay-Sachs disease; 1:30 and 1:3600 for cystic fibrosis; 1:40 and 1:6400 for Canavan disease; 1:15 and 1:900 for Gaucher disease 1:100 and 1:10,000 for Bloom syndrome , 1:30 and 1:3600 for Familial dysautonomia and 1:80 and 1:6,400 for Fanconi anemia. The Molecular Genetics Laboratory performs multiplex assays to screen for all seven diseases in individuals at risk. Note: This screen is most appropriate for people who are Ashkenazi Jews. This screen is not appropriate for individuals from other ethnic backgrounds. Those individuals should use other testing approaches to assess their carrier risk for these diseases. Contact the laboratory to determine appropriate testing for individuals of mixed heritage.

12. Canavan Research Foundation - Canavan Disease WHAT IS canavan disease? Like many other identified leukodystrophies, canavan disease interferes with the body s normal production of myelin. http://www.canavan.org/whatis.html

13. Canavan Disease - Genetics Home Reference Conditions. Genes. Understand Genetics. Resources. Glossary. About. Help. canavan disease. What is canavan disease? canavan disease. What is canavan disease? canavan disease is an inherited disorder of the central nervous called Nacetyl-L-aspartic acid (NAA). canavan disease is one of a group http://ghr.nlm.nih.gov/ghr/disease/canavandisease

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Canavan disease Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog Canavan disease What is Canavan disease? Canavan disease is an inherited disorder of the central nervous system in which affected individuals cannot break down a compound called N-acetyl-L-aspartic acid (NAA). Canavan disease is one of a group of genetic disorders called the leukodystrophies. The signs and symptoms of this disease usually begin early in infancy. The course of the condition can be quite variable, however. Signs and symptoms include developmental delay, particularly in motor skills such as such as sitting, standing, and walking; decreased muscle tone; increased head size (macrocephaly); abnormal posture; and mental retardation. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop. How common is Canavan disease?

14. Genetics Education And Counseling Program canavan disease Genetics Education and Counseling Program John A What is canavan disease? canavan disease is caused by the lack of a substance in the body called aspartoacylase http://www.pitt.edu/~edugene/Canavan.pdf

15. Canavan Research Illinois - Canavan Disease - Dedicated To Curing Canavan Diseas of canavan disease, Description and photos of Children Battling canavan disease. What Is canavan disease.......What Is canavan disease? http://www.canavanresearch.org/whatis.htm

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 In The News ... Contact Us Canavan Research Illinois Dedicated To Curing Canavan Disease www.canavanresearch.org What Is Canavan Disease Canavan disease is a rare and devastating fatal childhood neurodegenerative disorder. Canavan affects the formation of myelin, or white matter of the brain. The children battling Canavan disease are loving and highly social, yet they are trapped in bodies that cannot respond to signals from the brain. These precious children ( such as Max Randell pictured ) are unable to hold up their heads, sit up, crawl, and most will never say a single word. Many of the children use a series of blinks and augmentative equipment to communicate. In children afflicted with Canavan disease a gene identified as ASPA is defective. This gene produces an essential enzyme in the brain known as Aspartoacylase which breaks down an acid (N-Acetylaspartate) or NAA. Due to this defect, NAA accumulates to dangerously high levels in the brain drastically interfering with the formation of myelin. As Canavan disease is progressive, the brain eventually disintegrates into spongy tissue and even the most elemental signals cannot get through.

16. Medical Library: Canavan Disease canavan disease. What Is canavan disease? Is There Any Treatment? There is no cure for canavan disease, nor is there a standard course of treatment. http://www.medem.com/MedLB/article_detaillb.cfm?article_ID=ZZZ6HF7H7JC&sub_cat=5

17. Medem: Medical Library: Canavan Disease - For Printer Medical Library DONE WITH PRINTINGDone with printing. canavan disease. What Is canavan disease? What Is the Prognosis? The prognosis for canavan disease is poor. http://www.medem.com/MedLB/article_detaillb_for_printer.cfm?article_ID=ZZZ6HF7H7

18. Canavan Disease - Health And Medical Information: Diseases And Conditions, Medic MedicineNet Home Diseases Conditions AZ List canavan disease. Advanced Search. What is canavan disease? canavan disease is a http://www.medicinenet.com/Canavan_Disease/article.htm

MedicineNet Home > Canavan Disease Advanced Search Printer-Friendly Format Add to Favorites Email to a Friend ... Next page Canavan Disease What is Canavan disease? What are the signs of Canavan disease? What is the course of Canavan disease? Is there effective treatment for Canavan disease? ... Canavan Disease At A Glance What is Canavan disease? Canavan disease is a progressive fatal inherited (genetic) disorder of the central nervous system (CNS). What are the signs of Canavan disease? The signs of Canavan disease usually appear between 3 to 6 months of age. The signs include developmental delay (significant motor slowness), enlargement of the head (macrocephaly), loss of muscle tone (hypotonia), poor head control, and severe feeding problems. What is the course of Canavan disease? As the disease progresses, convulsions (seizures), shrinkage of the nerve to the eye (optic atrophy) which often causes blindness, heartburn (gastrointestinal reflux), and deterioration of swallowing ability develop. Most children with Canavan disease die before 10 years of age. Is there effective treatment for Canavan disease?

19. Canavan Disease - Health And Medical Information: Diseases And Conditions, Medic MedicineNet Home Doctor s Views AZ List canavan disease. Advanced Search. Doctors Views. canavan disease Genetic Screening Advised. http://www.medicinenet.com/script/main/art.asp?articlekey=9291

20. Jacob's Cure...A Fight Against Canavan Disease http://www.jacobscure.org/

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