61. Canavan Disease,Canavan Disease,Canavan Disease,Aspa Deficiency,Aspartoacylase D canavan disease,canavan disease,canavan disease,canavan disease,Aspa Deficiency,Aspartoacylase Deficiency,canavan disease,canavan disease,Aspa Deficiency http://www.icomm.ca/geneinfo/canavan.htm

Canavan disease,Canavan disease,Canavan disease,Aspa Deficiency,Aspartoacylase Deficiency,Canavan disease,Canavan disease,Aspa Deficiency,Aspartoacylase Deficiency For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Canavan Disease also known as: Aspa Deficiency Aspartoacylase Deficiency (as defined by the National Institute for Neurological Disorders and Strokes NINDS Canavan Disease Information Page 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? ... Selected references What is Canavan Disease? 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 disorders called the leukodystrophies that affect growth of the myelin sheath of the nerve fibers in the brain.

62. Canavan Disease - Brochures - BCM Medical Genetics Laboratories canavan disease is a genetic disorder that occurs most frequently in people of Ashkenazi Jewish descent (1 in every 6400), although it can occur in any ethnic http://www.bcmgeneticlabs.org/brochures/lit docs/lit-canavan.html

Close Window Canavan Disease How does a person get Canavan disease? Canavan disease is a genetic disorder that is inherited from one's parents. As a result, a child must be born with Canavan to have it. It cannot be caught like a virus. Genes, the units of inheritance How is Canavan disease inherited? One in 40 people of Ashkenazi Jewish descent carry one mutation for Canavan disease. The mutation prevents the gene from working. These individuals are known as carriers and show no symptoms of the disease. They are perfectly healthy because they have another functional gene that can make aspartocyclase. Therefore, they are normal. In order for a child to have Canavan disease, both parents must be carriers of a Canavan mutation and pass the mutation on to their child. Therefore, a person with Canavan disease has two Canavan mutations, unlike their carrier parents who have only one. This pattern of inheritance is called autosomal recessive inheritance. Autosomal recessive inheritance For a couple in which both partners are Canavan disease carriers, in every pregnancy there is a 25% chance (1 in 4) of having a child with Canavan disease (the chance that each parent will pass on their Canavan gene is 1 in 2, or 1/2, so the chance that the child will receive both genes is 1/2 x 1/2, which is 1 in 4). There is also a 50% chance (1 in 2) of having a child who will be a healthy carrier like his/her parents. And there is a 25% chance of having a child who does not carry the Canavan gene at all.

63. Canavan Disease and the University of Texas Medical Branch at Galveston have used gene therapy to hinder destruction of brain tissue in mouse models of canavan disease, a rare http://www.ufgi.ufl.edu/UFGInews/canavan.htm

Your browser does not support script Researchers use gene therapy in mouse models of childhood disease to stop brain degeneration GAINESVILLE, Fla. (April 1, 2003) — Scientists from the University of Florida and the University of Texas Medical Branch at Galveston have used gene therapy to hinder destruction of brain tissue in mouse models of Canavan disease, a rare genetic disorder that is fatal in children. Researchers gave a single injection of a corrective gene into the brains of mice to stop healthy tissue from developing pockets of fluid and air that render it spongy and nonfunctional, said Ronald J. Mandel , a neuroscientist with the UF Genetics Institute and UF’s Evelyn F. and William L. McKnight Brain Institute. “The results in the mice are absolutely remarkable,” Mandel said. “Tissue that would otherwise be damaged looks normal. We have not determined matters of how the brain would function, but the structure of the brain improved.” Canavan disease is an inherited brain disorder that can occur in any ethnic group, but it primarily affects children of Eastern and Central European Jewish — specifically Ashkenazi — origin, according to the National Institute of Neurological Disorders and Stroke. About 90 percent of Jews in the United States are of Ashkenazi descent; one in 40 carries the Canavan gene. “The good news is it’s not just the cells that receive the gene that remain clear, but the cells in the small, immediate area surrounding those cells,” said

64. CCHS Clinical Digital Library Clinical Resources by Topic Metabolic Disorders. canavan disease Clinical Resources. canavan disease Access document. Clinical Guidelines http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lipid/leukodystrophies/can

Clinical Resources by Topic: Metabolic Disorders Canavan Disease Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Canavan Disease Patient/Family Resources Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 3 - Mood, Emotion, and Thought: Access document History and Definitions: Access document Clinical History: Access document Anatomy of Mood, Emotion, and Thought: Access document Examination of Mood, Emotion, and Thought: Access document Evaluation Guidelines: Access document Clinical Syndromes: Access document General Management Goals: Access document Reviews and Selected Updates: Access document References: Access document Chapter 30 - Storage Diseases: Neuronal Ceroid-Lipofuscinoses, Lipidoses, Glycogenoses, and Leukodystrophies: Access document Introduction: Access document Leukodystrophies: Access document Reviews and Selected Updates: Access document References: Access document MD Consult Reference Books: Table of contents Health Sciences Library subscription INFO All MD Consult Reference Books for Neurology (eMedicine): Table of contents Inherited Metabolic Disorders: Access document Pediatrics Resources See also General Pediatrics Resources Behrman: Nelson Textbook of Pediatrics 17th Ed.-2004 (MD Consult):

65. CCHS Clinical Digital Library canavan disease Patient/Family Resources. Spanish Miscellaneous. General Metabolic Disorders Patient/Family Resources; canavan disease Clinical Resources. http://cchs-dl.slis.ua.edu/patientinfo/metabolism/inborn/lipid/leukodystrophies/

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.

66. Canavan Disease canavan disease. Canavan Foundation. canavan disease. Canavan Research Foundation dedicated to finding a cure by raising funds for medical research. http://www.ability.org.uk/Canavan_Disease.html

Our Aims Services Stats ... Z Canavan Disease Canavan Foundation Canavan Disease Canavan Research Foundation - dedicated to finding a cure by raising funds for medical research. Canavan Foundation What Every Family Should Know Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

67. Canavan Disease Click here to find out everything that you could ever want to know about canavan disease, there is more information here than you ever dreamed of. http://health-megasite.com/articles/9/canavan-disease.html

Click here to find out everything that you could ever want to know about canavan disease , there is more information here than you ever dreamed of Sponsored Links canavan disease Here are some more sites that may be of interest: Title: NINDS Canavan Disease Information Page http://www.ninds.nih.gov/health_and_medical/disorders/canavn_doc.htm Description: Canavan Disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Title: MEDLINEplus Medical Encyclopedia: Canavan disease http://www.nlm.nih.gov/medlineplus/ency/article/001586.htm Description: ... Y Z 0-9 Canavan disease Contents of this page: Alternative ... recommended for prospective parents with a family history of Canavan disease . Whether you are a carrier for Canavan disease can be ... Title: The NTSAD Diseases Family: Canavan Disease http://www.ntsad.org/pages/canavan.htm

68. HSC Department Of Paediatric Laboratory Medicine canavan disease (CVN) MOLECULAR ANALYSIS. Although survival rates vary, the majority of patients with canavan disease die in childhood. http://www.sickkids.on.ca/molecular/CanavanDisease.ASP

69. Canavan Disease --  Britannica Student Encyclopedia canavan disease Britannica Student Encyclopedia. MLA style canavan disease. Britannica Student Encyclopedia. 2004. Encyclopædia Britannica Premium Service. http://www.britannica.com/ebi/article?eu=343423&query=disease&ct=ebi

70. Alfigen/The Genetics Institute | Laboratory Services | Molecular Genetics (DNA D canavan disease Mutation Analysis. GENERAL INFORMATION. INDICATIONS FOR canavan disease 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*

71. Canavan Disease, DNA Analysis canavan disease, DNA Analysis. Number. Use. Identification of carrier and affected individuals for two point mutations associated with canavan disease. Limitations. http://www.labcorp.com/datasets/labcorp/html/chapter/mono/mg003100.htm

Canavan Disease, DNA Analysis Number CPT Related Information Jewish Ancestry Reproductive Profile Synonyms Aminoacylase-2 Deficiency; ASP(A) Deficiency; Aspartoacylase Deficiency Specimen Whole blood, amniotic fluid, or chorionic villus sample (submission of maternal blood is required for fetal testing) Volume 7 mL Minimum Volume 3 mL Container Lavender-stopper (EDTA) tube; sterile plastic conical tube or two confluent T25 flasks for fetal testing Storage Instructions Maintain specimen at room temperature. Causes for Rejection Frozen or hemolyzed specimen; quantity not sufficient for analysis Use Identification of carrier and affected individuals for two point mutations associated with Canavan disease Limitations This test detects approximately 98% of mutations responsible for Canavan disease in Ashkenazi Jews. Methodology Polymerase chain reaction (PCR) and restriction enzyme analysis References Am J Hum Genet Genet Test

72. Disease - Canavan Disease - Hartford, Connecticut , Saint Francis Care Disease canavan disease - courtesy of Saint Francis Care of Hartford, Connecticut, contemporary medicine with major clinical concentrations in heart disease http://www.saintfranciscare.com/11158.cfm

@import url(main.css); About Us Health Information Adam Article Manager CareMail Signup ... Ways To Help Adam Article Manager Back Back to main Health Information page Disease - Canavan disease Definition: Canavan disease is an inherited disorder of aspartic acid metabolism. It is characterized by degeneration of the white matter of the brain Alternative Names: Spongy degeneration of the brain; Aspartoacylase deficiency Causes And Risk: 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. Prevention: Genetic counseling is recommended for prospective parents with a family history of Canavan disease. Whether you are a carrier for Canavan disease can be determined by enzyme analysis of skin cells.

73. Canavan Disease - Trustworthy, Physician-Reviewed Information From WebMD Canavan Foundation. canavan disease Canavan Foundation International. Founded 1992. Provides information , education, literature, phone http://content.health.msn.com/hw/health_guide_atoz/shc29can.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; MSN Home My MSN Hotmail Shopping ... Money Web Search: Health Email This Page Newsletters Join ... Sign in Search Health Health Home Health Topics A-G H-N ... Healthy Living WaterCooler Check out today's buzz Also from MSN Win Dream Trip! Find Senior Housing Lose Weight sponsored Health Mall New Epilepsy Help Whiten Your Smile! Adult ADHD? Tame the Pain Sign up for the Health Newsletter Your e-mail address: Preferred Format HTML (graphical) Plain Text Learn more Medical Encyclopedia Health Topics Symptoms Medical Tests Medications ... Canavan Foundation Canavan Disease Canavan Foundation International. Founded 1992. Provides information , education, literature, phone support, conferences, advocacy and supports research towards the prevention of canavan. Online support and chat rooms available. WRITE: Canavan Foundation 110 Riverside Dr. 4F New York, NY 1024 CALL: 212-873-4640 TDD: 1-877-422-6282 FAX: 212-873-7892 E-MAIL: canavanfoundation.org WEBSITE: www.canavanfoundation.org VERIFIED: 5/8/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information.

74. Canavan Disease canavan disease PubMed Medline search on canavan disease. canavan disease factsheet National Institute for Neurological Disorders and Stroke. http://www.ion.ucl.ac.uk/library/patient/canavan.htm

Canavan disease Medline NLM definition : A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71) PubMed Medline search on Canavan Disease Canavan Disease factsheet: National Institute for Neurological Disorders and Stroke Support Groups Climb The Quadrangle, Crewe Hall, Weston Road, Crewe, Cheshire CW1 6UR Tel: 01270 250221 (information, advice and support to parents and professionals involved with metabolic diseases). The office is open 9.00am - 5.00pm Mondays to Fridays.

75. CANAVAN DISEASE: Contact A Family - For Families With Disabled Children: Informa printer friendly, canavan disease, canavan disease is a rare genetic, degenerative disorder of the nervous system. It is one of a http://www.cafamily.org.uk/Direct/c14.html

printer friendly CANAVAN DISEASE home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Canavan disease is a rare genetic, degenerative disorder of the nervous system. It is one of a group of genetic disorders called the leukodystrophies. The term leukodystrophy comes from the Greek words, 'leuko' meaning white and referring to the 'white matter' of the nervous system and 'dystrophy' meaning imperfect growth or development. In Canavan disease, there is widespread degeneration of the white matter in the brain leading to loss of sensory, motor and intellectual function. The white matter of the brain, otherwise known as myelin sheath, is a fatty covering which acts as an insulator around the nerve fibres of the brain. Myelin sheath is made up of a number of different chemicals. Canavan disease is caused by a deficiency in one of these chemicals and this affects the growth of the myelin sheath. Canavan disease is caused by changes (or mutations) in a gene on chromosome 17. There are different types of Canavan disease which include congenital, infantile, and late-onset form. Babies with Canavan disease appear normal in the first few months of life. However, in early infancy they begin to lose previously acquired skills including seeing and hearing. The head becomes progressively enlarged (megalencephaly) as the brain swells and the bones of the skull fail to fuse. Babies lose control of their muscles and the muscles supporting the head become floppy and weak (

76. University Of Miami School Of Medicine - Glossary - Canavan Disease Diseases and Conditions. canavan disease. canavan disease At A Glance. canavan disease is a progressive fatal inherited disorder of the central nervous system. http://www.med.miami.edu/patients/glossary/art.asp?articlekey=9461

77. Hunter's Hope:Canavan's Disease Canavan s Disease. Like many other identified leukodystrophies, such as Krabbe, canavan disease interferes with the body s normal production of myelin. http://www.huntershope.org/krabbe/other_leukos/canavan.asp

About Us Krabbe Disease Research Families ... Newborn Screening Canavan's 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, such as Krabbe, 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. The Canavan gene has been identified, allowing at-risk couples to carrier test for this deadly disease. Both parents must be carriers in order to have a child with Canavan (25% risk or 1 in 4). In January 1998, the FDA approved a gene therapy to be used in an experimental trial at Yale University and Jefferson Medical College. Sixteen children ranging in ages from 9 months to 7 years have received gene therapy at these two institutions, some more than once. This trial was the first clinical trial for a genetic brain disease in the US. Most have shown clinical improvement. Scientific measurements of visual and motor messages to the brain, as well as physician and parental assessments, have been obtained

78. Health Library - SelfHelp Resources Information about national and local self-help organizations and support groups. canavan disease. Self Help Clearinghouse. Canavan Foundation. http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29c

79. JUF News And Public Affairs Chicago family leads fight against canavan disease. By Children with canavan disease gradually lose motor and mental ability. Eventually http://www.juf.org/news_public_affairs/article.asp?key=3328

80. OMIM - CANAVAN DISEASE http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271900

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 4     61-80 of 96    Back | 1  | 2  | 3  | 4  | 5  | Next 20