81. Canavan Disease canavan disease. Studies on canavan disease. Overview. The Combined Health Information Database. Federally Funded Research on canavan disease http://www.icongrouponline.com/health/Canavan_Disease_Ph.html

ICON Health Publications Official Health Sourcebooks Search ICON Health Titles: CANAVAN DISEASE A Bibliography, Medical Dictionary, and Annotated Research Guide to Internet References (ACY2 deficiency; aminoacylase-2 deficiency; aspartoacylase deficiency; Canavan's leukodystrophy; Canavan-Van Bogaert-Bertrand disease; spongy degeneration of cerebral white matter; spongy degeneration of the central nervous system; spongy degeneration of the neuroaxis; van Bogaert-Bertrand syndrome) P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Canavan disease is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so.

82. Canavan Disease, DNA Analysis Kaul R, Gao GP, Aloya M, et al, canavan disease Mutations Among Jewish and Matalon R, canavan disease Diagnosis and Molecular Analysis, Genet Test 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 (CVS). Submission of maternal blood is required for fetal testing. Buccal swab (The buccal swab collection kit contains instructions for the use of a buccal swab.) Volume 7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS Minimum Volume 3 mL whole blood, 2 mL amniotic fluid, 10 mg CVS Container Lavender-stopper (EDTA) tube or yellow-stopper (ACD) tube; sterile plastic conical tube or two confluent T25 flasks for fetal testing; LabCorp buccal swab kit Storage Instructions Maintain specimen at room temperature. Causes for Rejection Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container Use Identification of carrier and affected individuals for two point mutations, E285A and Y231X, associated with Canavan disease Limitations This test detects approximately 98% of mutations responsible for Canavan disease in Ashkenazi Jews.

83. The Scientist :: Gene Therapy Targets Canavan Disease, Sep. 17, 2001 Gene Therapy Targets canavan disease. By Douglas Steinberg return to webpage. Want to read more? This article is in our premium content section. http://www.the-scientist.com/2001/9/17/20/1

Please login or register DAILY E-MAIL RSS HANDHELD CURRENT ISSUE DAILY NEWS UPFRONT FEATURE ... return to webpage RESEARCH Gene Therapy Targets Canavan Disease By Douglas Steinberg return to webpage Want to read more? This article is in our premium content section. Gain access to our rich archive containing 17+ years of The Scientist exclusive online-only content, and detailed survey results. Back to top The Scientist support@the-scientist.com

84. Foundations Join Forces To Finance Research For Canavan Disease Children with canavan disease cannot crawl or walk, may suffer from A relentlessly progressive disease, canavan disease generally results in death by 10 http://www.scienceblog.com/community/older/2003/C/2003139.html

July 2003 From American Academy of Neurology Foundations join forces to finance research for Canavan disease ST. PAUL, MN (July 18, 2003) – The Canavan Foundation and the American Academy of Neurology Foundation today announced the sponsorship of a new $100,000 Clinical Research Training Fellowship to support research towards the cause, treatment or cure of Canavan disease. Fellowship applications are due October 1, 2003. This joint investment in research offers new hope for the patients and families of those affected by Canavan disease, a rare and fatal genetic disorder that affects the myelin sheath that insulates and protects nerves and the brain. Children with Canavan disease cannot crawl or walk, may suffer from seizures or mental retardation and cannot perform activities of daily living. A relentlessly progressive disease, Canavan disease generally results in death by 10 years of age. It is believed that research advances may lead to treatments or even a cure. The new joint Clinical Research Training Fellowship provides a fresh opportunity to recruit the brightest young investigators in the neurosciences today to join the team dedicated to solving this puzzle. Under the auspices of the AAN Foundation, proposals are being solicited from across the country and around the world. Preference will be given to clinicians with an interest in a long-term career in clinical research who are able to demonstrate the support of a mentor and sponsor institution to conduct the proposed investigation. PhD candidates conducting clinically-oriented research will also be considered.

85. Pregnancy In both TaySachs and canavan diseases, there is a buildup of a substance in the child’s brain that prevents normal development. There is no known cure for http://www.labtestsonline.org/understanding/conditions/pregnancy-12.html

TESTS Test not listed? A/G Ratio ACE ACT ACTH AFB Culture AFP Maternal AFP Tumor Marker Albumin Aldolase Aldosterone Allergies ALP Alpha-1 Antitrypsin ALT Ammonia Amylase ANA Antibody Tests Antiglobulin, Direct Antiglobulin, Indirect Antiphospholipids Antithrombin Apo A Apo B ApoE Genotyping aPTT AST Autoantibodies Bicarbonate Bilirubin Blood Culture Blood Gases Blood Smear BMP BNP Bone Markers BRCA BUN C-peptide CA-125 CA 15-3 CA 19-9 Calcitonin Calcium Cardiac Biomarkers Cardiac Risk Cardiolipin Antibodies Catecholamines CBC CCP C. diff CEA Celiac Disease Tests CF Gene Mutation Chemistry Panels Chlamydia Chloride Cholesterol CK CK-MB CMP CMV Coagulation Factors Complement Levels Cortisol Creatinine Creatinine Clearance CRP CRP, high-sensitivity

86. Spongy Degeneration (Canavan Disease) a CHORUS notecard document about spongy degeneration (canavan disease) http://chorus.rad.mcw.edu/doc/00378.html

CHORUS Collaborative Hypertext of Radiology Nervous system About CHORUS Search Feedback spongy degeneration (Canavan disease) autosomal recessive dysmyelinating disease onset at 2 - 9 months megalencephaly (Alexander disease only other degenerative neurological disease in infants with big head!) blindness +/- deafness hypotonia > spasticity Dx: brain bx centrum semiovale most severely affected Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 26 May 2004 Related CHORUS documents: leukodystrophy adrenoleukodystrophy metachromatic leukodystrophy Alexander disease ... Pelizaeus-Merzbacher syndrome Search for related articles: AJR American Journal of Roentgenology PubMed : index to biomedical literature ... Medical College of Wisconsin

87. OB-GYN-L Messages For October, 1998: Re: OB: Canavan Disease Re OB canavan disease. From zygote@ICSI.Net Fri Oct 30 160814 1998 Molecular carrier screening for canavan disease should be offered http://forums.obgyn.net/ob-gyn-l/OBGYNL.9810/1153.html

-VISIT OUR OTHER FORUMS- OB-GYN-L Ultrasound Ultrasound History Physicians-in-Training Tech Talk OBSTET-L (portuguese) OBGIN-L (spanish) Nursing Re: OB: Canavan Disease From: zygote@ICSI.Net Fri Oct 30 16:08:14 1998 Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] Next message: Daniel J. Flaherty MD: "Vulvar varicosities in pregnancy" Previous message: zygote@ICSI.Net: "Re: maternal obesity and site of delivery" Maybe in reply to: Geffrey Klein: "OB: Canavan Disease" Date sent: Tue, 27 Oct 1998 10:40:50 -0600 Send reply to: ob-gyn-l@obgyn.net GK6972@americanmed.com ob-gyn-l@talk.obgyn.net geffrey.klein@obgyn.net Geff, This tech Bull has been a long time in creation and it correctly indicates that those individuals at highest risk should be screened. The test is done routinely in Jewish couples including Tay-Sachs. Since in the near future you will be informing all caucasians about risk for C.F. and offering some element of screening - single, dual or other methods, it is appropriate to inform pts who can then choose to avail themselves of the technology. The question I have no answer for is what occurs when health coverage does not cover it. The pt chooses wheather they are willing to ay for those services. Life is difficult! Bob Robert J. Carpenter, Jr., M.D. St. Luke's Medical Tower # 2720 6624 Fannin, Houston, TX 77030

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

89. Entrez PubMed virusbased gene transfer for canavan disease, a childhood leukodystrophy. canavan disease, also known as Van Bogaert-Bertrand disease, is a monogeneic, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

90. JUF News And Public Affairs Max has canavan disease, a debilitating neurological disorder that strikes canavan disease is a disorder in which defective genes are unable to produce http://www.juf.org/news_public_affairs/article.asp?key=3328

91. Saving Max We network other families affected by canavan disease and raise funds in order to aggressively support medical research aimed at fnding a cure. http://savingmax.com/_wsn/page2.html

Saving Max A Mission to Cure Canavan Disease What is Canavan Disease? Canavan disease is a fatal genetic neurological disorder that deteriorates the white matter in the brain. This white matter (or myelin) insulates nerve cells in the brain and spinal cord, much like the insulation around a wire, to ensure that nerve impulses are transmitted throughout the body. In children with Canavan disease, a defective gene prevents the production of an enzyme responsible for breaking down an acid called NAA. An over accumulation of NAA in the brain is thought to drastically hinder healthy white matter formation, making the afflicted children incapable of holding up their heads, sitting or even speaking.Children affected by Canavan may die in early childhood, but often live into adolescence and even young adulthood.The Canavan gene has been identified allowing at risk couples to test for this deadly disease. Both parents must be carriers in order to have a child with Canavan (25% risk or 1 in 4).While slightly more prevalent in the Ashkenazi Jewish population, Canavan occurs in people of every ethnic background as well. Expectant couples concerned about risk of carrying the gene for Canavan should seek genetic counseling.

92. Disease - Canavan Disease - Detroit, Michigan Disease canavan disease - courtesy of Henry Ford Health System of Detroit, Michigan. http://www.henryfordhealth.org/12677.cfm

3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Health Encyclopedia Health Encyclopedia 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.

93. Canavan Disease Research: National Institute Of Neurological Disorders And Strok The National Institute of Neurological Disorders and Stroke (NINDS) is the leading supporter of biomedical research on disorders of the brain and nervous http://accessible.ninds.nih.gov/find_people/voluntary_orgs/volorg807.htm

Find People - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders Funding ... Jobs and Training You are here: Home Find People Voluntary Organizations Find People section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. At NINDS NINDS Staff Advisory Council Labs at NINDS Groups at NINDS Government Other NIH Institutes Government Resources Other related groups Organizations - you are in this section Professional Societies NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Content for this page Organization Contact Information Canavan Disease Research P.O. Box 8194 Rolling Meadows, IL 60008-8194 Tel: 800-833-2194 EMail: canavan@canavanresearch.org http://www.canavanresearch.org Description: Non-profit organization that funds research, works to raise public awareness, and offiers services in support of families affected by Canavan disease. Organizations such as this one may focus on information, research, fundraising, advocacy and awareness programs, rehabilitation, or patient support. They are not part of the Federal Government and they may not be tax-exempt.

94. Resource Library Find Information On Canavan Disease At MerckSource Find information on canavan disease at MerckSource. Learn more about canavan disease, canavan disease is an inherited disorder of aspartic acid metabolism. http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

95. Canavan Disease, Eastern Carolina canavan disease University Health Systems of Eastern Carolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties in eastern http://www.uhseast.com/117562.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Self-Help Resources Information about national and local self-help organizations and support groups. Canavan Disease This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Canavan Foundation International. Founded 1992. Provides information and education for persons affected by Canavan's. Offers literature, phone support, conferences, and advocacy. Supports research. Online support available. WRITE: Canavan Foundation 450 West End Ave. New York, NY 10024 CALL: 212-873-4640 TDD: 1-877-422-6282 FAX: 212-873-7892 E-MAIL: info@canavanfoundation.org WEBSITE: www.canavanfoundation.org VERIFIED: 10/21/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, 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. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

96. Chicago-Kent College Of Law: PLUS Program 2003, Law & Technology Similar to TaySachs disease, canavan disease occurs most frequently in families of Ashkenazi Unfortunately, Amy too was affected with canavan disease. http://www.kentlaw.edu/classes/rstaudt/plustechlaw2003/canavan.htm

Canavan Disease Lawsuit Background Information on Greenberg v. Miami Children's Hospital, et al. Currrent Status: One of the parents named as a plaintiff in the lawsuit, Dan Greenberg and his wife, live outside of Chicago. Little did the Greenbergs know when their son Jonathan was born in 1981 that they would not only wage a losing battle to save their son's life, but that they would also be subjected to the secretive misappropriation of their son's physical essence: his genetic material. By the age of three months, the Greenbergs began to worry when Jonathan was unable to control his head, make eye contact, or put his hand to his mouth. The Greenbergs sought the advice of one specialist after another until six months later Jonathan was diagnosed with Canavan disease. Similar to Tay-Sachs disease, Canavan disease occurs most frequently in families of Ashkenazi Jewish decent and leads to a degeneration of the brain. The Greenbergs learned that this rare genetic disease had no known cure and that their son would never function past the developmental level of an infant for all of his short life and slowly succumb to the disease's degenerative effects. Children affected with Canavan can smile, look around and hear, but as the illness progresses, they often lose most of their vision and are prone to seizures and infection. They develop difficulty chewing and swallowing and most eventually require tube feeding. Though the children become less responsive over time, they are never totally unresponsive or in a coma. Life expectancy varies, but most do not reach their teen years.

97. Ashkenazi Jews Should Be Screened For Canavan Disease canavan disease starts manifesting itself in early infancy with low overall muscle tone and lack of head control. Mental retardation results and speech 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

98. Disease, Canavan Definition - Digestion And Digestive-related Information On Med Digestion information covering the digestion system and related diseases, procedures and tests, medications, and treatments. Produced by doctors. http://www.medterms.com/script/main/art.asp?articlekey=9255

99. Canavan S Disease NeuroLearn NeuroHelp Metabolic @ Background Summary canavan s disease (canavanvan Bogaert-Bertrand disease) or spongy canavan s disease is due to deficiency of N-aspartoacylase that catalyses 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.

100. 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. http://www.whonamedit.com/synd.cfm/421.html

Home List categories Eponyms A-Z Biographies by country ... Contact 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. A recommendation: Hypography is an open community about science and all things related 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.

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