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

search help staff Demyelinating Diseases Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Demyelinating Diseases The Myelin Project [the Odone family et al. ] - Washington DC (US) Brief Synopses of White Matter Disease: demyelinating , and White Matter Disease: dysmyelinating - CHORUS, Med College of Wisconsin (US) Diffuse Cerebral Sclerosis of Schilder About Alpers disease - NINDS Alpers disease information - James Madison Univ. (US) Canavan Disease About Canavan Disease - NTSAD (US) Canavan Disease - Univ of Pittsburgh (US) The Canavan Research Foundation - (US) Canavan Foundation Online 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

a) Parametri Genetici delle Neuropatie Sensomotorie Ereditarie (HMSN) iii) MORBO DI CANAVAN (CANAVAN'S DISEASE) 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 Type II: Infantile Form Type III: Juvenile Form CLINICAL FEATURES: Type I - Neonatal Form onset: at birth death within the first few weeks of life 1. Neurological Manifestations hypotonia, lethargy, decreased spontaneous movements difficulty sucking, swallowing, and feeding irritability Cheyne-Stokes respiration

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

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

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

ORPHANET database access Canavan disease Direct access to details Alias : Home Page

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

Patient/Family Resources by Topic: Metabolic Disorders Canavan Disease Patient/Family Resources Spanish Miscellaneous See also: Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources Canavan Disease Clinical Resources National Tay-Sachs and Allied Diseases Association: Homepage Profiles of Allied Diseases: List of documents Canavan Disease: Access document National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Canavan Disease: Access document United Leukodystrophy Foundation: Homepage Introductions to the Leukodystrophies: Access document Canavan Disease: Access document MEDLINE plus Medical Encyclopedia: Table of contents Canavan Disease: English Spanish Spanish MEDLINE plus Medical Encyclopedia: Table of contents Canavan Disease: English Spanish Miscellaneous Canavan Disease Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Leukodystrophy: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents YAHOO - Health:Diseases and Conditions:Genetic Disorders Additional Genetic Disorders resources ( These sites have not been reviewed.

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

EXPERT WITNESSES MEDICAL EXPERTS MEDIATORS ARBITRATORS LEGAL CONSULTANTS Appraisal Banking Case Management Employment ... SPEAKERS BUREAU Medical Experts - Advanced Search 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

Canavan Disease Mutation Analysis GENERAL INFORMATION 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. INDICATIONS FOR CANAVAN DISEASE MUTATION ANALYSIS Confirmation of diagnosis of affected individuals Carrier identification Individuals with a family history of Canavan disease Pregnant couples of Ashkenazi Jewish descent Prenatal Diagnosis Both parents known Canavan disease mutation carriers Previous child with Canavan disease METHODOLOGY PCR and restriction fragment length polymorphism (PCR-RFLP) SPECIMEN REQUIREMENTS AND HANDLING Blood: 5-10 ml in a yellow-top ACD or lavender-top EDTA tube Amniotic Fluid: Direct: 5 ml Cultured: One confluent T-25 flask In addition, 5-10 ml maternal blood in yellow-top ACD or lavender-top EDTA tube*

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

Canavan Disease 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

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: Steve Benowitz steven.benowitz@mail.tju.edu Thomas Jefferson University Author: wkalle Generated by News Editor 2.0 by Kai Garlipp WWW: Kai Garlipp Frank S. Zollmann HUM-MOLGEN

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

HUM-MOLGEN DIAGnostics/Clinical Research 28 July 1997 Canavan disease 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

SEARCH: The Web Yellow Pages HOME AJC.COM Illustrated Health Encyclopedia 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 Also Check Out Subscribe to The Atlanta Journal-Constitution Home Autos Classifieds ... Our Sponsors By using AccessAtlanta.com you accept the terms of our Visitor Agreement . Please read it. Privacy statement Registered site users: edit your profile

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

SEARCH: The Web Yellow Pages HOME AJC.COM Illustrated Health Encyclopedia 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 Also Check Out Subscribe to The Atlanta Journal-Constitution Home Autos Classifieds ... Our Sponsors By using AccessAtlanta.com you accept the terms of our Visitor Agreement . Please read it. Privacy statement Registered site users: edit your profile

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

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 Last modified 26/Apr/2002 [Low Graphics]

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

Disease Injury Nutrition Poison ... Prevention Canavan disease Definition: Canavan disease is an inherited disorder of aspartic acid metabolism that is characterized by degeneration of the white matter of the brain Alternative Names: Spongy degeneration of the brain; Aspartoacylase deficiency 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. Review Date: 10/26/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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

What the Last Person Wrote to Lana ... dear lana and family, my little sister also has canavans disease.. she just turned 13 years old, and shes doing great. We celebrated her birthday on a cruise over christmas! i hope everything goes well for you and your family~ a friend Write Lana a message Read Lana's Guestbook 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

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

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