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         Canavan Disease:     more books (15)
  1. The Official Parent's Sourcebook on Canavan Disease: A Directory for the Internet Age by Icon Health Publications, 2005-01-30
  2. Canavan Disease - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-09-16
  3. Neurochemistry of Metabolic Diseases - Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease by Edited by Sankar Surendran, 2007-01-01
  4. Ashkenazi Jews Topics: Yiddish Language, Tay-Sachs Disease, Canavan Disease, Ashkenazi Jews, Kitniyot
  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. Canavan disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Lisa, MS, CGC Andres, 2005
  7. Autosomal recessive disorders: Tay-Sachs disease, Phenylketonuria, Cystic fibrosis, Canavan disease, Wilson's disease, Lafora disease
  8. Canavan Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
  9. Canavan disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Lisa, MS, CGC Andres, Rosalyn, MD Carson-DeWitt, 2005
  10. Leukodystrophies: Adrenoleukodystrophy, Canavan Disease, Pelizaeus-Merzbacher Disease, Metachromatic Leukodystrophy, Krabbe Disease
  11. Lysosomal Storage Diseases: Tay-Sachs Disease, Canavan Disease, Sly Syndrome, Neuronal Ceroid Lipofuscinosis, Mucopolysaccharidosis
  12. Canavan disease
  13. Toxic Torts: Tort Actions for Cancer and Lung Disease Due to Enviornmental Pollution by Paul D., Norman J. Landau, And Michael M. Canavan {Authors And Editors} Rheingold, 1977-01-01
  14. TOXIC TORTS: TORT ACTIONS FOR CANCER & LUNG DISEASE DUE TO ENVIRONMENTAL POLLUTION by Paul D., Norman J. Landau, & Michael M. Canavan, Editors Rheingold, 1977

81. Entrez PubMed
Gene therapy of canavan disease AAV2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain. Janson
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

82. Genetic Diseases: Canavan Disease
Home Jewish Life Genetic Diseases canavan disease. canavan disease Reprinted with permission from the Mount Sinai Center for Jewish Genetic Diseases,
http://www.ujc.org/content_display.html?ArticleID=81089

83. Hope For Lana - About Lana
canavan disease is a rare, fatal neurological disorder that affects the formation of myelin, or white matter of the brain, which insulates nerve cells, much
http://www.18street.com/lana/canavaninfo.asp

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Canavan disease is a rare, fatal neurological disorder that affects the formation of myelin, or white matter of the brain, which insulates nerve cells, much like the insulation around a wire. Children with Canavan disease are loving and highly social, yet they are trapped in bodies that cannot respond to signals from the brain. Canavan disease is caused by the lack of a substance in the body called aspartoacylase (ASPA). This substance is a type of protein (enzyme) normally found in the part of the brain where nerve impulses are sent to other parts of the brain and to the spinal cord. ASPA breaks down a compound called NAA into two smaller compounds. When ASPA is missing from the body, NAA builds up and causes brain damage, mental retardation, a large head size, tremors, and an inability to move muscles. Canavan disease may also cause blindness (due to problems with nerves from the eye to the brain), feeding difficulties, poor weight gain, and problems with swallowing.
Normal Myelin Formation
Myelin Affected by Canavan As illustrated above, a defective gene impairs the formation of myelin and allows the accumulation of a toxic compound. Canavan children are unable to hold up their heads, sit up, crawl, and most will never say a single word. As Canavan disease is progressive, the brain disintegrates into a spongy mass and even the most elemental signals cannot get through. These precious children gradually go blind, lose the ability to swallow, require feeding tubes, and can eventually fall into a vegetative state with no voluntary movement. Unless a cure is found, most Canavan children will die before their 10th birthday.

84. Canavan Disease
Article on canavan disease from WorldHistory.com, licensed from Wikipedia, the free encyclopedia. Return to Article Index canavan disease.
http://www.worldhistory.com/wiki/C/Canavan-disease.htm
World History (home) Encyclopedia Index Localities Companies Surnames ... This Week in History
Canavan disease
Canavan disease in the news Canavan disease is a rare, inherited, neurological disorder characterized by spongy degeneration of the brain (in which the white matter is replaced by microscopic fluid-filled spaces). It is caused by a deficiency of an enzyme called aspartoacylase. Canavan disease is one of a group of genetic disorder s called the leukodystrophies that affect growth of the myelin sheath of the nerve fiber s in the brain. The myelin sheath is the fatty covering surrounding nerve cells that acts as an insulator. Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or hearing loss may also occur. Although Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently. There is no cure for Canavan disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive. The prognosis for Canavan disease is poor. Death usually occurs before age 10.

85. Canavan Disease Genzyme Genetics
canavan disease (also known as spongy degenerative disease) is a severe, progressive leukodystrophy characterized by developmental delay, hypotonia
http://www.genzymegenetics.com/testdir/tests_conditions/conditions/gene_p_testdi
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Genzyme Genetics Home
Contact Us Search Genzyme Corporate ... Genzyme Websites What's New In: Select One Genetic Testing Genetics News Tests and Conditions Biochemical Genetics Cytogenetics Fluorescence In Situ Hybridization (FISH) ... General Specimen Handling Instructions Canavan Disease Canavan disease (also known as spongy degenerative disease) is a severe, progressive leukodystrophy characterized by developmental delay, hypotonia, macrocephaly and poor head control. The first clinical symptoms usually appear between 3-6 months of age. Spasticity, seizures, optic atrophy, gastrointestinal reflux, and feeding difficulties develop as the child gets older. Currently there is no effective treatment and most children with Canavan disease die within the first decade of life. The basic biochemical defect is a deficiency of the enzyme aspartoacylase. This deficiency leads to an elevated level of N-acetylaspartic acid (NAA). Canavan disease is most prevalent among individuals of Ashkenazi Jewish (Eastern European) descent. It is estimated that 1 out of every 40 individuals of Ashkenazi Jewish descent is a carrier. Inheritance is autosomal recessive: both parents must be carriers in order to have an affected child. Facts About Molecular Testing of Canavan Disease
  • Analysis of the four most common Canavan mutations identifies 98 percent of Ashkenazi Jewish carriers and approximately 60 percent of non-Ashkenazi Jewish carriers.

86. Yesodot Resources: Specific Disabilities - Canavan Disease. Yesodot Provides Fam
Resources Specific Disabilities canavan disease Skip to Main Content. Angelman Syndrome. Apraxia and Dyspraxia. Back to Resources. canavan disease.
http://www.yesodot.org/resources/specific_dis/canavan.htm
Families Building Jewish Community Foundations for Children, Youth and Young Adults with Disabilities
Resources: Specific Disabilities
Canavan Disease
Angelman Syndrome Apraxia and Dyspraxia Attention-Deficit/Hyperactivity Disorder (ADHD) Autism Spectrum Disorder Canavan Disease Cerebral Palsy Cri du Chat Deaf and Hard of Hearing (Including American Sign Language) Deafblind ... Maple Syrup Urine Disease (MSUD) Mental Illness Neurotransmitter Disease Prader-Will Rett Syndrome ... Williams Syndrome For information about a disability not listed below, go to NORD http://www.raredisease.org (if it is a rare condition) or NIH http://www.nih.gov/ NICHCY http://www.nichcy.org also has brief information sheets about many of the disabilities/conditions listed below. Back to Resources
Canavan Disease
Canavan Foundation
http://www.canavanfoundation.org/
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87. Ashkenazi Jews Should Be Screened For Canavan Disease
Old Archive. Ashkenazi Jews Should Be Screened for canavan disease. By Ilene Springer. Prospective Jewish parents have another disease
http://www.generationj.com/archive/health/canavan.html

Old Archive
Ashkenazi Jews Should Be Screened for Canavan Disease
By Ilene Springer
Click here: The Canavan Foundation www.canavanfoundation.org
Shape Matters in Heart Disease Risk
lene Springer writes on health for Cosmopolitan, Ladies' Home Journal, Family Circle and other national magazines. She lives in Brookline, MA with her husband and two children and is editor of JewishHealth.com

88. American Academy Of Neurology Foundation - Canavan Disease Clinical Research Tra
Association of Neuroscience Departments and Programs. American Academy of Neurology Foundation canavan disease Clinical Research Training Fellowship.
http://www.andp.org/news&events/aan_canavan.htm
Association of Neuroscience Departments
and Programs
American Academy of Neurology Foundation
Canavan Disease Clinical Research Training Fellowship
Application Deadline: October 1, 2003
The Canavan Disease Clinical Research Training Fellowship, co-sponsored by the AAN Foundation
and the Canavan Foundation, is a two-year award of $50,000 per year, plus a tuition reimbursement stipend of up to $7,000 per year, to support the development and training of new independent investigators making significant contributions toward finding a treatment or cure for Canavan disease and related leukodystrophies.
This award will be presented at the American Academy of Neurology's 56th Annual Meeting in San Francisco, April 24 to May 1, 2004.
Application information is available online at http://www.neurofoundation.org For more information please contact:
Cynthia Joyce, Director
AAN Foundation
1080 Montreal Avenue St. Paul, MN 55116 cjoyce@aan.com Revised by Web Editor July 16, 2003

89. NINDS Canavan Disease Information Page
canavan disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). NINDS canavan disease Information Page.
http://accessible.ninds.nih.gov/health_and_medical/disorders/canavn_doc.htm
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    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

    90. Canavan's Disease (www.whonamedit.com)
    canavan s disease A progressive, degenerative disorder of the central nervous system characterised by spongy changes in the white matter. canavan s disease
    http://www.whonamedit.com/synd.cfm/421.html

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    Whonamedit.com does not give medical advice.
    This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
    Canavan's disease Also known as:
    Canavan’s sclerosis
    Canavan's syndrome Canavan-van Bogaert-Bertrand syndrome van-Bogaert-Bertrand syndrome van-Bogaert-Bertrand spongy degeneration syndrome Synonyms: Cerebral white matter spongy degeneration, encephalopathia spongiotica, familial idiocy with spongy degeneration of the neuraxis, familial degeneration of the nervous system, familial spongy degeneration, hereditary spongy dystrophy, infantile spongy degeneration of the white matter of the brain, progressive degenerative subcortical encephalopathy, spongy degeneration of the nervous system. Associated persons: Ivan Georges Bertrand Myrtelle May Canavan Ludo Van Bogaert Description: A progressive, degenerative disorder of the central nervous system characterised by spongy changes in the white matter. The clinical picture shows muscle rigidity; muscle hypotonia, especially of the neck, with dropping of the head; macrocephaly, mental and motor retardation, optic atrophy with blindness, and exaggerated reflexes. The head can become enlarged. It develops in infancy, usually at the age of three to nine months. Death usually within 18 months after onset of symptoms.

    91. Canavan's Disease
    canavan s disease,. Print this article, Cerebral atrophy is a later finding in canavan s disease. GS. The Encyclopaedia of Medical Imaging Volume VI1.
    http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/CANAVANS DISEAS
    Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Canavan's disease, (Myrtelle May Canavan, 18791953, American neurologist) (also called van Bogaert Canavan disease or spongy degeneration of the cerebral white matter), inherited autosomal recessive disease belonging to the group of leukodystrophy . The cause is a deficiency of N-acetylaspartylase that results in accumulation of N-acetylaspartic acid in the urine, plasma and brain. The disease usually becomes apparent within the first 6 months of life with decreased motor activity, hypotonia, visual loss and increased skull growth. Choreoathetosis and seizures may appear late in the course of the disease. The diagnosis depends on brain biopsy confirmation; a fine network of cysts causes the characteristic spongy appearance in the subcortical white matter, with relative sparing of the internal capsule. The MR appearance of Canavan's disease is that of diffuse increased signal throughout the white matter symmetrically on T2-weighted images, with relative sparing of the internal capsules and early involvement of the subcortical arcuate fibres. The putamen tends to retain a dark signal, with the globus pallidus more commonly affected. Cerebral atrophy is a later finding in Canavan's disease.
    GS
    The Encyclopaedia of Medical Imaging Volume VI:1
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    92. Canavan's Disease
    canavan s disease,. Print this article, (Myrtle canavan, 18791953, American neurologist) (also called spongiform degeneration, and
    http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/CANAVANS DISEASE
    Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Canavan's disease, Clinically the disease is characterised by psychomotor retardation, blindness, and megalencephaly. It was initially described in Jewish children from eastern Europe and Western Russia but has also been described in other ethnic groups. An infantile form which is thought to be autosomal recessive and a juvenile form which is sporadic and occurs in non-Jewish children. The infantile form presents in the first 3 to 4 months of life with hypotonia and macrocephaly. Blindness is noted by age 2 years together with hypertonia, athetosis and myoclonic seizures. Death occurs by age 3 years. The juvenile form is less common and has its onset at about 5 years with a cerebellar syndrome, mental deterioration, visual loss and spasticity. Macrocephaly may not be present. A rare congenital form of the disease may have onset in the first few days of life with lethargy, poor suck and subsequent hypotonia. Death occurs within days to weeks. Imaging The imaging of Canavan's disease reflects the distribution of the pathological changes with decreased attenuation in the peripheral white matter and subcortical U-fibres of both cerebral hemispheres and the deep white matter in the cerebellar hemispheres. On MRI these areas show T1 prolongation and T2 shortening. The white matter of the occipital lobes tends to be more involved than frontal or parietal lobes. The deep grey nuclei may also be involved with the globi pallidi showing greater involvement than the putamina. The corpus callosum and deep white matter are relatively spared and are frequently normal in appearance early in the disease. The ventricular system is also normal early but may dilate later when white matter loss is more severe. The brain stem and spinal cord may also be involved but to a lesser extent than other areas.

    93. Canavan S Disease
    canavan s disease. canavan s disease is due to deficiency of Naspartoacylase that catalyses N-acetylaspartic acid into L-aspartic acid and acetate.
    http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNF2IE01.htm
    Canavan's Disease NeuroLearn NeuroHelp Metabolic Background ... Gross Pathology BACKGROUND AND CLINICAL INFORMATION Head Summary: Canavan's disease (Canavan-van Bogaert-Bertrand disease) or spongy degeneration of the brain is an autosomal recessive leukodystrophy due to abnormal aspartoacylase. Clinically characterized by hypotonia, head lag, and macrocephaly without hydrocephalus. Biochemically characterized by aspartoacylase deficiency. Histologically characterized by spongiotic changes in both white matter and gray matter. Biochemistry: N-acetylaspartic acid is found in high concentration and, after glutamic acid, the second most abundant free amino acid in the brain. Canavan's disease is due to deficiency of N-aspartoacylase that catalyses N-acetylaspartic acid into L-aspartic acid and acetate. Genetics: autosomal recessive, prevalent among Ashkenazi Jew extraction (carrier rate 1:37). The N-aspartoacylase gene is on chromosome 17p13-ter. The most common mutation is a mis-sense mutation in codon 854 that changes from A to C leading to a change of glutamic acid to alanine (E285A mutation)in the hydrolytic domain causing deficient enzymatic activity. Other mutations include A305E. Clinical course is not related to genetic heterogeneity. Clinical:
    • S ymptoms usually do not manifest at the time of birth.

    94. ACR Learning File Web
    row). There is moderate ventriculomegaly. Return to top. Diagnosis canavan s disease. Return to top. Discussion The dysmyelinating
    http://www.learningfile.com/learning_file/viewcase.php?section=nu&case_num=603

    95. Canadian Jewish News
    Foundation fights for cure to canavan s disease. By LEILA SPEISMAN Staff Reporter. TORONTO It s a good day when losing your keys
    http://www.cjnews.com/pastissues/01/may3-01/health/health.htm
    May 3, 2001
    Iyar 10, 5761
    Foundation fights for cure
    to Canavan's disease By LEILA SPEISMAN

    Staff Reporter TORONTO - It's a good day when losing your keys or spilling your coffee makes you frantic, says Ellen Schwartz.
    It means putting things in perspective when you are coping with a child with Canavan's disease, a genetic, neurodegenerative disease that most of us haven't heard of.
    Nearly four years ago, Ellen and Jeff Schwartz had a son, Jacob. Concerned that he didn't seem to be meeting developmental milestones like lifting his head or tracking people with his eyes, they took him to their pediatrician for tests. An MRI, a CT scan, and blood and urine tests didn't show anything at first, but further urine tests, and finally a DNA test, led to the diagnosis of Canavan's disease.
    "It hit us like a bolt out of the blue," Jeff told The CJN.
    He explained that Canavan is a leukodystrophy, one of a group of progressive disorders that affect the brain, spinal cord and nerves. Children with Canavan have an elevated level of the chemical n-acetylaspartic acid, which affects the production of myelin. Myelin covers the nerve cells, and acts as a conductor of signals between the brain and the nervous system.
    "[Canavan's disease] doesn't allow signals from the brain to reach the proper place at the proper time," he said.

    96. Canavan Research Foundation
    Foundation is a notfor-profit organization dedicated to pioneering research that can treat and eventually cure canavan and other genetic brain diseases.
    http://www.canavan.org/
    This rare genetic disorder results in severe neurological dysfunction and eventually causes the brain to degenerate into a spongy mass. Canavan children cannot sit, crawl or say a single word. They gradually lose the ability to see, to swallow food, to fight off illness...and die within the first decade of life. Until recently, there was absolutely no hope for these children, but through the fundraising efforts of the Canavan Research Foundation, we're changing that.
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