Geometry.Net - Health_Conditions: Canavan Disease

Research Papers Term Reports Assignments College University Health History High
canavan disease /. canavan disease. canavan disease is named for MyretelleCanavan, who first discovered the disease in 1931. Canavan
http://research-papers.com/papers/heal4.shtml

Extractions: Canavan Disease Facts about Canavan disease Alternative names: spongy degeneration of cerebral white matter Definition: An inherited disorder of aspartic acid metabolism that is characterized by degeneration of the white matter of the brain 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. Prevention: Genetic Counseling is recommended for prospective parents with a family history of Canavan disease. The carrier state for Canavan disease can be diagnosed by an enzyme analysis of skin fibroblasts. Prenatal diagnosis is possible. Symptoms: A family history of Canavan disease, decreased muscle tone, feeding difficulties, nasal regurgitation, swallowing difficulties, reflux with vomiting, increasing head size, headlag, failure to met expectations, seizures, joint stiffness, and optic atrophy
Click10.com - Boy With Canavan Disease To Undergo Experimental Gene Therapy
Boy With canavan disease To Undergo Experimental Gene Therapy Trust Fund Set Up COOPERCITY, Fla., 548 pm EDT June 6, 2001 There is some promising news for
http://www.click10.com/mia/health/kristisgoodhealth/stories/kristisgoodhealth-80

Extractions: Boy With Canavan Disease To Undergo Experimental Gene Therapy Trust Fund Set Up COOPER CITY, Fla., 5:48 p.m. EDT June 6, 2001 There is some promising news for a South Florida family that's been fighting to save their little boy from a deadly disease. Nicholas Breedon (pictured, left) , 2, suffers from Canavan disease a genetic disorder that kills within the first 10 years of life. And after a long battle, the FDA recently lifted a ban on an experimental gene therapy that could give kids with Canavan a chance at a better life. The first child had the procedure done yesterday in Philadelphia. Nicholas is scheduled to undergo the same gene therapy sometime in August. A trust fund has been set up to help out Nicholas Breedon. Donations can be sent to: Nicholas L. Breedon Trust Fund
Health Library Find Information On Canavan Disease At
Find information on canavan disease at MerckSource. Learn more about Canavandisease canavan disease. Definition canavan disease is an inherited
http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns
The Scientist :: Children's Parents Sue Hospital Over Genetics Patent
HOUSTON Families of children who died of canavan disease, a rare degenerative braindisease, are suing the hospital and researchers who used their children's
http://www.biomedcentral.com/news/20001122/02/

Extractions: HOUSTON Families of children who died of Canavan disease, a rare degenerative brain disease, are suing the hospital and researchers who used their children's blood and tissue to identify and patent the gene responsible for the disorder. The six-count lawsuit filed on October 30 is believed to be the first of its kind. It alleges breach of informed consent, breach of fiduciary duty, unjust enrichment, fraudulent concealment and misappropriation of trade secrets. Canavan disease is caused by a deficiency of the enzyme aspartoacylase, which leads to increased excretion of N-acetylaspartic acid (NAA). These abnormally high levels of NAA lead to demyelination and spongy degeneration of the brain causing the neurological features of Canavan disease. No cure is known. The story begins in 1987 when Daniel Greenberg and his wife, parents of two children with Canavan disease, convinced Dr Reuben Matalon to try to identify the gene responsible for the disease and develop affordable carrier and prenatal testing. The research began when the Greenbergs provided Matalon with numerous blood and urine samples from their children. They located other affected families and arranged for them to provide urine, skin and even post-mortem tissue samples to Matalon. They established the first ever Canavan Registry that provided listings of families with a history of the disease and what autopsy tissues had been preserved and stored. This registry was crucial to Matalon's research. The Canavan Foundation persuaded Canavan families to give blood, tissue, urine and autopsy samples, as well as financial support to Matalon.
Kimberlee Michals Matalon
K., Sebesta, D., Deanching, M., Gashkoff, P., and Casanova, J. Aspartoacylase Deficiencyand NAcetylaspartic Aciduria in Patients with canavan disease. Am.
http://www.utmb.edu/pedi1/main/facbios/DivGENET/matalonk.htm

Extractions: Matalon, R., Michals, K ., Sebesta, D., Deanching, M., Gashkoff, P., and Casanova, J.: Aspartoacylase Deficiency and N-Acetylaspartic Aciduria in Patients with Canavan Disease. Am. J. Med. Gen., 29:463-471, 1988. Matalon, R., Kaul, R., Casanova, J., Michals, K ., Johnson, A., Rapin, I., Gashkoff, P. and Deanching, M. Aspartoacylase Deficiency: The Enzyme Defect in Canavan Disease. J. Inher. Metab Dis. 12:2, 329-331,1989.
UNTSHC Clinic Digital Library
canavan disease Patient/Family Resources. General Metabolic DisordersPatient/Family Resources; canavan disease Clinical Resources.
http://unthsc-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
CANAVAN'S DISEASE
Pediatric Database (PEDBASE); Discipline CNS; Last Updated 5/22/94 canavan'SDISEASE. DEFINITION A neurodegenerative disorder characterized
http://www.icondata.com/health/pedbase/files/CANAVAN'.HTM

Extractions: Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 5/22/94 A neurodegenerative disorder characterized by degeneration of CNS white matter and specific CNS pathological findings. risk factors: Ashkenazi Jews (Type I) sporadic (Type II) Type I: Neonatal Form Type II: Infantile Form Type III: Juvenile Form onset: first few months of life most common form death by 3-4 years of age 1. Neurologic Manifestations
Canavan's Disease (www.whonamedit.com)
canavan's disease A progressive, degenerative disorder of the central nervous systemcharacterised by spongy changes in the white matter. canavan's disease
http://www.whonamedit.com/synd.cfm/421.html

Extractions: 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. 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. Both sexes affected. It has a predilection for families of Ashkenazi Jewish origin, but has later been observed also in an Irish-American as well as a German family. The affected individuals tend to have blond hair and light complexion, in contrast to the darker hair and complexion of their normal siblings. Inheritance is autosomal recessive.
Canavan's Disease
canavan's disease,, Print this article, (Myrtle canavan, 18791953,American neurologist) (also called spongiform degeneration, and
http://www.amershamhealth.com/medcyclopaedia/Volume VII/Canavans disease.html

Extractions: *For Medical Professionals only, registration required 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.
Canavan's Disease
canavan's disease,, Print this article, Cerebral atrophy is a later findingin canavan's disease. GS The Encyclopaedia of Medical Imaging Volume VI1.
http://www.amershamhealth.com/medcyclopaedia/Volume VI 1/CANAVANS DISEASE.asp

Extractions: *For Medical Professionals only, registration required 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.
Canavan Research Foundation
The canavan Research Fund is a not-for-profit organization dedicated to pioneering research that can Category Health Conditions and Diseases Leukodystrophy canavanThe canavan Research Foundation is a notfor-profit organization dedicated to pioneering research that can treat and eventually cure canavan and other
http://www.canavan.org/
AMA (Medical Science) Gene Patent Leads To Legal Action
In 1987 the Greenbergs, a family devastated by having two children born with Canavandisease collaborated with a scientist, Reuben Matalon, to search for the
http://www.ama-assn.org/ama/pub/category/3358.html

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