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Canavan Disease:     more detail

Canavan Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20 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 The Official Parent's Sourcebook on Canavan Disease: A Directory for the Internet Age by Icon Health Publications, 2005-01-30 Canavan Disease: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References by Icon Health Publications, 2004-09-16 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 Canavan disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Lisa, MS, CGC Andres, 2005 Neurochemistry of Metabolic Diseases - Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease by Edited by Sankar Surendran, 2007-01-01 I Don't Have Time for This: My Battle with Cancer by Thomas Canavan Jr., 2004-08-17

lists with details

41. Demyelinating Diseases
    (US). canavan disease About canavan disease NTSAD (US); CanavanDisease - Univ of Pittsburgh (US); The Canavan Research Foundation  
    http://www.mic.ki.se/Diseases/c10.314.html
    
    Extractions: Canavan Disease Multiple Sclerosis About Multiple Sclerosis - Merck Manual, Home Edition Multiple Sclerosis: Current Status and Strategies for the Future - NAP 2001 (US) The International Multiple Sclerosis Support Foundation J Sumption ], and the MS-Library - Int'l MS Support Foundation Nat'l Multiple Sclerosis Society including an extensive Source Book - (US) MS Crossroads - Multiple Sclerosis Connections Alt.Support.Mult-Sclerosis

42. Jacob's Cure...A Fight Against Canavan Disease
    http://www.jacobscure.com/

43. Leucodistrofie/CANAVAN'S DISEASE
    iii) MORBO DI CANAVAN (CANAVAN'S DISEASE). DEFINITION (1989) indicated that congenital,infantile, and lateonset forms of canavan disease have been reported.  
    http://www.peacelink.it/appeal/gianmarco/iii.html
    
    Extractions: DEFINITION: A neurodegenerative disorder characterized by degeneration of CNS white matter and specific CNS pathological findings. EPIDEMIOLOGY: incidence: rare age of onset: newborn to childhood (depends on the Form) risk factors: familial - autosomal recessive (Type I) chrom.#: ? gene: ? aspartoacylase Ashkenazi Jews (Type I) sporadic (Type II) PATHOGENESIS: 1. Background a genetic defect affecting aspartoacylase (normally cleaves the N-acetyl group from N-acetylaspartic acid) -> accumulation of N-acetylaspartic acid throughout the white matter (specifically in astrocytes) PATHOLOGY: 1. Spongy Vacuolization/Degeneration accumulation of N-acetylaspartic acid leads to vacuolization of the white matter with astrocyte swelling -> spongy degeneration of myelin fibres required for definite diagnosis but not pathognomonic as spongy vacuolization is seen in other disorders, i.e., Maple Syrup Urine Disease, Phenylketonuria TYPES: Type I: Neonatal Form

44. University Of Miami School Of Medicine - Glossary - Canavan Disease
    Diseases and Conditions. canavan disease. canavan disease. aminoacylase2 deficiency, and ACY2 deficiency). canavan disease At A Glance.  
    http://www.med.miami.edu/patients/glossary/art.asp?articlekey=9461

45. 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

46. ORPHANET® : Canavan Disease
    ORPHANET database access. canavan disease. Direct access to details Alias Aspartoacylasedeficiency,Spongy degeneration of central nervous system. Home Page.  
    http://www.orpha.net/static/GB/canavan.html

47. Florida State University College Of Medicine Digital Library
    canavan disease Patient/Family Resources. Miscellaneous. General MetabolicDisorders Patient/Family Resources; canavan disease Clinical Resources.  
    http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/lipid/leukodystrophie
    
    Extractions: Patient/Family Resources by Topic: Metabolic Disorders Canavan Disease Patient/Family Resources Spanish Miscellaneous See also: National Institute of Neurological Disorders and Stroke: Homepage United Leukodystrophy Foundation: Homepage MEDLINE plus Medical Encyclopedia: Table of contents Spanish Miscellaneous Canavan Disease Patient/Family Resources Healthfinder (US DHHS): Homepage National Library of Medicine MEDLINE plus Health Topics: Index YAHOO - Health:Diseases and Conditions:Genetic Disorders

48. Experts, Consultants, Authorities - Canavan Disease
    Specialty canavan disease. AMFS, Inc. (American Medical Forensics).2640 Telegraph Avenue Berkeley, California 94704 Tel 800275  
    http://www.hgexperts.com/listing/Medical-Experts-Canavan-Disease.asp
    
    Extractions: EXPERT WITNESSES MEDICAL EXPERTS MEDIATORS ARBITRATORS LEGAL CONSULTANTS Appraisal Banking Case Management Employment ... SPEAKERS BUREAU Search for any word(s) in Companies' Description and Expertises Company Name City State/Province Country Alabama Alaska Alberta Arizona Arkansas British Columbia California Colorado Connecticut Delaware District of Columbia Florida Georgia Guam Hawaii Idaho Illinois Indiana Iowa Kansas Kentucky Louisiana Maine Manitoba Maryland Massachusetts Michigan Minnesota Mississippi Missouri Montana Nebraska Nevada New Brunswick New Hampshire New Jersey New Mexico New York Newfoundland North Carolina North Dakota Northwest Territory Nova Scotia Ohio Oklahoma Ontario Oregon Pennsylvania Prince Edward Island Puerto Rico Quebec Rhode Island Saskatchewan South Carolina South Dakota Tennessee Texas U.S. Virgin Islands Utah Vermont Virginia Washington West Virginia Wisconsin Wyoming Yukon Territory United States of America Afghanistan Albania Algeria American Samoa Andorra Angola Anguilla Antigua Argentina Armenia Aruba Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia Bosnia and Herzegovina Botswana Brazil British Virgin Islands Brunei Brunei Darussalam Bulgaria Burkina Faso Burma Burundi Cambodia Cameroon Canada Canary Islands Cayman Islands Central African Republic Chad Channel Islands Chile China Colombia Comoros Congo Congo (Dem. Rep.)

49. Canavan Disease
    Genetic Diseases Neurological. canavan disease. canavan disease is an early-onsetform leukodystrophy. canavan disease What is canavan disease?  
    http://gradyhealthsystem.client.web-health.com/web-health/topics/GeneralHealth/g

50. Alfigen/The Genetics Institute | Laboratory Services | Molecular Genetics (DNA D
    canavan disease Mutation Analysis. GENERAL INFORMATION. INDICATIONS FOR CANAVANDISEASE MUTATION ANALYSIS. Confirmation of diagnosis of affected individuals.  
    http://www.alfigen.com/laboratory-canavan.htm
    
    Extractions: Canavan disease is an autosomal recessive, severe neurodegenerative disease resulting from a deficiency of the enzyme aspartoacylase. Clinical onset is usually in early infancy and features include atonia of neck muscles, hyperextension of legs and flexion of arms, blindness, severe mental deficiency and megalocephaly. Death usually occurs before the age of two years, however, late onset form of Canavan disease has also been reported. Spongy degeneration of the white matter is usually seen on pathological examination. Canavan disease occurs most commonly in the Ashkenazi Jewish population with an estimated carrier frequency of 1/45 ~ 1/59. The gene was cloned in 1994. Two mutations, E285A and Y231X, have been found to account for approximately 98% of mutations in this ethnic group. Confirmation of diagnosis of affected individuals Carrier identification

51. CANAVAN Disease
    canavan disease. Gas chromatography/mass spectrometry. Total ion chromatogram ofa urine sample from a patient with canavan disease. (inst – internal standard).  
    http://ivo.medfac.acad.bg/lmp/bch/chrom/CANAVAN.htm

52. Jacob's Ladder
    canavan disease What is canavan disease? Unfortunately, children afflictedwith canavan disease are unable to sit, crawl, walk, or even speak.  
    http://www.jacobsladder.ca/canavan.html
    
    Extractions: What is Canavan Disease? Canavan disease is an inherited, progressive neurodegenerative disease which strikes in early infancy causing progressive mental and physical disabilities. Children with Canavan disease have limited ability to move their hands, hold their head up, or perform even the simplest of tasks. Over a period of time, these children may even lose their sense of sight and the ability to swallow food. Unfortunately, children afflicted with Canavan disease are unable to sit, crawl, walk, or even speak. Although Canavan disease is rare, it is but one form of a group of disorders called leukodystrophies, in which a greater number of children are also affected by structural abnormalities and deterioration of motor, sensory, and intellectual functions. Children with Canavan disease are unable to produce an enzyme called aspartoacylase. As a result, abnormal fluid collections develop in parts of the brain, particularly in the white matter. The result is a distinctive microscopic change called spongy degeneration which produces the progressive neurological symptoms of Canavan disease. What Characterizes Leukodystrophies?

53. HUM-MOLGEN: Gene Therapy For Canavan Disease
    Gene therapy for canavan disease, July, 12 2001 327, your informationresource in human molecular genetics. Jefferson researchers  
    http://www.hum-molgen.de/NewsGen/07-2001/msg31.html
    
    Extractions: home genetic news bioinformatics biotechnology ... register for news alert Gene therapy for Canavan disease July, 12 2001 3:27 Jefferson researchers use gene therapy for rare, inherited brain disease A team of scientists, neurosurgeons and physicians at Thomas Jefferson University Hospital are for the first time using a novel form of gene therapy for Canavan disease, a fatal, neurodegenerative childhood disorder. Armed with a new $2.1 million, three-year NIH grant, researchers recently introduced 90 billion copies of a healthy gene into the brains of three children. Their brains lacked the gene, which makes an enzyme that breaks down an acid substance in the brain. National Institute of Neurological Disease and Stroke Contact:

54. Untitled
    28 July 1997 canavan disease. I run a molecular genetics disgnostic servicelab and offer a service for canavan disease (aspartoacylase deficiency).  
    http://www.hum-molgen.de/clinical/28797-ncpr1.html
    
    Extractions: 28 July 1997 I run a molecular genetics disgnostic service lab and offer a service for Canavan disease (aspartoacylase deficiency). This is a relatively common recessive disorder in Ashkenazi Jews where 2 mutations account for almost all CD chromosomes but very rare in other poulations. Does anyone have samples (DNA) from CD patients particularly non-Ashkenazi patients. Would you be able or willing to send me some DNA which would be very useful as control DNA to work up and validate mutation detection techniques. Best wishes Stewart Payne Northwick Park Hospital, Harrow, UK s.j.payne@ic.ac.uk

55. Health Ency.: Disease: Canavan Disease
    canavan disease. canavan disease is an inherited disorder of aspartic acid metabolismthat is characterized by degeneration of the white matter of the brain.  
    http://www.accessatlanta.com/shared/health/adam/ency/article/001586.html
    
    Extractions: Important notice Ency. home Disease C Canavan disease Overview Symptoms Treatment Prevention Alternative names: Spongy degeneration of the brain; Aspartoacylase deficiency Definition: Canavan disease is an inherited disorder of aspartic acid metabolism that is characterized by degeneration of the white matter of the brain Causes and Risks Canavan disease is inherited as an autosomal recessive trait and has a higher incidence among Ashkenazi Jews than the general population. A deficient enzyme , aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain and subsequent degeneration of the white matter. Typical cases have onset of symptoms in the first year of life with loss of developmental milestones and death before 18 months of age. Ency. home Disease C Please read this Important notice

56. Health Ency.: Disease: Canavan Disease
    canavan disease. There is no specific treatment. Prognosis. With canavan disease,the central nervous system degenerates, and progressive disability is likely.  
    http://www.accessatlanta.com/shared/health/adam/ency/article/001586trt.html
    
    Extractions: Important notice Ency. home Disease C Canavan disease Overview Symptoms Treatment Prevention Alternative names: Spongy degeneration of the brain; Aspartoacylase deficiency Treatment Treatment aims to ease the symptoms of the disease. There is no specific treatment. Prognosis With Canavan disease, the central nervous system degenerates, and progressive disability is likely. Death usually occurs in the first 1 to 2 decades of life. Complications This is often a fatal disorder and includes severe disabilities such as mental retardation, blindness, and inability to walk. Call Your Health Care Provider If: Call your health care provider if your child has any symptoms of Canavan disease. Ency. home Disease C Please read this Important notice

57. GeneReviews : Canavan Disease
    GeneReviews canavan disease, Notes for physicians on canavan disease (aspartoacylasedeficiency, aspa deficiency). canavan disease / genetics.  
    http://omni.ac.uk/whatsnew/detail/4008577.html
    
    Extractions: Back to whats new page. GeneReviews : Canavan disease Notes for physicians on Canavan disease (aspartoacylase deficiency, aspa deficiency). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in September 1999 (updated October 2001), this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration. Canavan Disease / genetics

58. Canavan Disease
    canavan disease. canavan disease is an inherited disorder of aspartic acidmetabolismthat is characterized by degeneration of the white matter of the brain.  
    http://www.pennhealth.com/ency/article/001586.htm
    
    Extractions: Causes, incidence, and risk factors: Canavan disease is inherited as an autosomal recessive trait and has a higher incidence among Ashkenazi Jews than the general population. A deficient enzyme , aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain and subsequent degeneration of the white matter. Typical cases have onset of symptoms in the first year of life with loss of developmental milestones and death before 18 months of age.

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

60. The Family Village / Library / Leukodystrophy
    Resources on Adrenoleukodystrophy, Alexander Disease, canavan disease, Krabbes Disease, Metachromatic Category Health Conditions and Diseases Leukodystrophy Types of Leukodystophy Adrenoleukodystrophy, Alexander Disease, canavan disease,Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease.  
    http://www.familyvillage.wisc.edu/lib_leukodystrophy.html
    
    Extractions: 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. Adrenoleukodystrophy

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