Extractions: www.canavanresearch.org Canavan disease is a rare and devastating fatal childhood neurodegenerative disorder. Canavan affects the formation of myelin, or white matter of the brain. The children battling Canavan disease are loving and highly social, yet they are trapped in bodies that cannot respond to signals from the brain. These precious children ( such as Max Randell pictured ) are unable to hold up their heads, sit up, crawl, and most will never say a single word. Many of the children use a series of blinks and augmentative equipment to communicate. In children afflicted with Canavan disease a gene identified as ASPA is defective. This gene produces an essential enzyme in the brain known as Aspartoacylase which breaks down an acid (N-Acetylaspartate) or NAA. Due to this defect, NAA accumulates to dangerously high levels in the brain drastically interfering with the formation of myelin. As Canavan disease is progressive, the brain eventually disintegrates into spongy tissue and even the most elemental signals cannot get through.
The Family Village / Library / Leukodystrophy Resources on Adrenoleukodystrophy, Alexander Disease, canavan disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Canavan Research Illinois_Home The fight to give Max and other children battling canavan disease, access to the most ambitious research and treatments that can be found, has given way to http://www.canavandisease.org/
About Canavan Disease canavan disease is a fatal genetic neurological disorder that deteriorates In children with canavan disease, a defective gene prevents the production of http://www.canavandisease.org/Canavan_Disease.html
Extractions: 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.
Extractions: Printer-Friendly Format FREE Newsletters Email to a Friend ... Next What is the molecular basis for Canavan disease? How is screening done for Canavan disease? How is prenatal diagnosis done for Canavan disease? What does the American College of Obstetricians and Gynecologists (ACOG) recommend? ... Canavan Disease At A Glance What is Canavan disease? The signs of Canavan disease usually appear between 3 to 6 months of age. The signs include developmental delay (significant motor slowness), enlargement of the head (macrocephaly), loss of muscle tone (hypotonia), poor head control, and severe feeding problems. What is the course of Canavan disease?
Extractions: Diseases: Canavan Disease Until 1988 the diagnosis of Canavan disease required brain biopsy to show spongy degeneration of the white matter. In 1987, it was discovered that children with Canavan disease excrete increased amounts of a substance known as N-acetylaspartic acid (NAA) in their urine. Following this discovery, many diagnoses of Canavan disease were made by demonstration of increased NAA in the urine. Canavan disease is inherited in an autosomal recessive In November of 1998, the American College of Obstetricians and Gynecologists adopted a position statement recommending that Ashkenazi Jewish couples be offered carrier screening for Canavan disease. Ideally the screening should be offered prior to pregnancy, and may be offered in conjunction with carrier screening for Tay-Sachs disease. Because of the increased frequency of the disease in Ashkenazi Jews, as well as the ability to identify a majority of a carriers with a high degree of accuracy, population based screening programs for Canavan disease are being implemented in many communities.
Medem: Medical Library: Canavan Disease canavan disease causes progressive brain atrophy. There is no cure, nor is there a Email canavanresearch@aol.com canavan disease Research PO Box 8194 http://www.medem.com/MedLB/article_detaillb.cfm?article_ID=ZZZ6HF7H7JC&sub_cat=5
Canavan Disease - Genetics Home Reference Where can I find additional information about canavan disease? What if I still have specific questions about canavan disease? http://ghr.nlm.nih.gov/condition=canavandisease
Extractions: Home What's New Browse Handbook ... Search Canavan disease On this page: Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the fatty covering that insulates nerve fibers. The signs and symptoms of this disease usually begin in early infancy; however, the course of the condition can be quite variable. Infants with Canavan disease typically appear normal for the first few months of life. By 3 to 5 months of age, affected infants begin having problems with development including a delay in motor skills such as turning over and sitting. These infants typically also have weak muscle tone (hypotonia), increased head size (macrocephaly), abnormal posture, and mental retardation. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop. How common is Canavan disease?
Canavan Disease - References - Genetics Home Reference Gordon N. canavan disease a review of recent developments. Eur J Paediatr Neurol. 2001;5(2)659. Review. PubMed citation This link leads to a site outside http://ghr.nlm.nih.gov/condition=canavandisease/show/References
Extractions: Home What's New Browse Handbook ... Search Canavan disease These sources were used to develop the Genetics Home Reference condition summary on Canavan disease. Last Comprehensive Review: August 2005 Published: September 6, 2005 Contact NLM Customer Service Lister Hill National Center for Biomedical Communications ... Selection Criteria for Web Links Indicates a page outside Genetics Home Reference.
Beat Canavan Disease, And Save A Little Girl's Life Unlike other babies, Danielle has canavan disease. canavan disease is a rare genetic disorder which results in severe neurological dysfunction and http://www.beatcanavan.org/
Extractions: Beat Canavan Disease You can help save a young girl from the devastating and lethal effects of Canavan disease! Danielle Alter's first birthday was on December 18, 2004. Danielle is a very sweet baby with a smile that melts your heart. Danielle has never been able to crawl, walk, or talk. Soon, she may not even be able to see or smile. Unlike other babies, Danielle has Canavan disease. Canavan disease is a rare genetic disorder which results in severe neurological dysfunction and eventually causes the brain to degenerate into a spongy mass. Canavan children cannot sit, crawl or say a single word. They gradually lose the ability to see, to swallow food, to fight off illness...and die. Until recently, there was absolutely no hope for children like Danielle. Dr. Paola Leone and her team are the only researchers in the world working directly with Canavan children. Thanks to their efforts, there is hope for Danielle and children like her. Dr. Leone and her team have pioneered a brain gene therapy to halt the progression of the disease. Their research offers a glimpse at treating and eventually eradicating similar degenerative diseases of the brain, such as Parkinson's disease, Alzheimer's disease, ALS (Lou Gehrig's disease), and Multiple Sclerosis. Danielle and other children like her need your help NOW!
Canavan Disease Links to information and resources for canavan disease, a lysosomal storage disorder. http://rarediseases.about.com/cs/canavandisease/
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Canavan Disease canavan disease is an inherited brain disorder that can occur in any ethnic group, Children with canavan disease have a deficiency of the enzyme http://www.ufgi.ufl.edu/UFGInews/canavan.htm
Extractions: Your browser does not support script 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 UFs 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 its not just the cells that receive the gene that remain clear, but the cells in the small, immediate area surrounding those cells, said
► Canavan Disease A medical encycopedia article on the topic canavan disease. http://www.umm.edu/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.
► Canavan Disease A medical encycopedia article on the topic canavan disease. http://www.umm.edu/ency/article/001586sym.htm
Canavan Disease canavan disease information, national and international support groups, clinics with genetic counselors and geneticists. http://www.kumc.edu/gec/support/canavan.html
Tay-Sachs & Canavan Diseases :: What Is Canavan Disease? Newborns with canavan disease appear healthy until between three and nine Children with canavan disease usually die in infancy or early childhood, http://www.tay-sachs.org/canavan.php
Extractions: Newborns with Canavan disease appear healthy until between three and nine months of age when subtle changes are noticeable, such as visual inattentiveness or an inability to grasp objects, roll over and perform other motor tasks. The child eventually becomes blind, but hearing remains sharp, so that affected children continue to respond to the voices of their caregivers. As the child grows, the presentation and progression of Canavan symptoms vary from one child to the next. In general, difficulties that surface include weak muscles that keep children from sitting or crawling, seizures and eating problems. Children with Canavan disease usually die in infancy or early childhood, although some survive into adolescence. Canavan disease (CD) belongs to a group of conditions known as leukodystrophies, characterized by defects in myelin, commonly known as the "white matter" in the brain. Myelin protects nerves and allows messages to be sent to and from the brain. All CD symptoms are explained by the progressive loss of myelin. As with Tay-Sachs, children with CD have an enzyme deficiency. The enzyme, aspartoacylase, is responsible for the break-down of a particular chemical in the brain. Without this enzyme, the chemical accumulates and causes the destruction of myelin.
Extractions: A baby with Tay-Sachs disease appears healthy at birth, and seems to be developing normally for a few months. Symptoms generally appear by six months of age. While symptoms vary from one child to the next, there is always a slowing down of development. Gradually, Tay-Sachs children lose motor skills and mental functions. Over time, the child becomes blind, deaf, mentally retarded, paralyzed and non responsive to the environment. Tay-Sachs children usually die by age five. Children with Tay-Sachs disease lack a vital enzyme, hexosaminidase A (Hex-A). Hex-A is needed for the body to break down a fatty waste substance found in brain cells. Without Hex-A, this substance accumulates abnormally and causes progressive damage until the nervous system can no longer sustain life. Tay-Sachs is an inherited disease that only occurs when both parents carry a Tay-Sachs gene and each parent transmits the defective gene to their child. A child who inherits two Tay-Sachs genes (one from each parent) produces no functional Hex-A enzyme and is certain to develop Tay-Sachs disease. A person with only one Tay-Sachs gene is perfectly healthy, but is a Tay-Sachs carrier. When both parents are carriers, there is a 1 in 4 (25%) chance, with every pregnancy, of having a child with Tay-Sachs disease.
Introduction: Canavan Disease - WrongDiagnosis.com Introduction to canavan disease as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/c/canavan_disease/intro.htm
Extractions: 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. The myelin sheath is the fatty covering surrounding nerve cells that acts as an insulator. Researching symptoms of Canavan disease: Further information about the symptoms of Canavan disease is available including a list of symptoms of Canavan disease , or alternatively return to research other symptoms in the symptom center Treatments for Canavan disease: Various information is available about treatments available for Canavan disease , or research treatments for other diseases.
