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Topic: Canavan disease


In the News (Fri 24 May 13)

  
  Center for Jewish Genetic Diseases - Department of Human Genetics - Mount Sinai School of Medicine
This disease is characterized by the progressive loss of white matter, the regions of the brain through which nerve impulses are sent to other parts of the brain or to the spinal cord.
Canavan disease is inherited in an autosomal recessive manner, which means that couples with an affected child have a 1 in 4 (25%) chance in each future pregnancy to have another child with Canavan 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.
www.mssm.edu /jewish_genetics/diseases/canavan.shtml   (552 words)

  
 Jacob's Ladder - Canavan Disease
Canavan disease is an inherited, progressive neurodegenerative disease which strikes in early infancy causing progressive mental and physical disabilities.
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.
Canavan disease is inherited as an autosomal recessive disorder.
www.jacobsladder.ca /canavan.html   (524 words)

  
 Canavan Foundation :: What is Canavan Disease?
Canavan disease (CD) is a relatively rare, but always fatal, inherited, degenerative brain disorder that primarily affects children of eastern and central European Jewish (Ashkenazi) descent, which includes about 90 percent of the Jews in America.
Canavan disease is classified as one of the leukodystrophies—a group of inherited neurological disorders that affect the growth of the myelin sheath, the "white matter" of the brain that serves as an insulator to protect nerves.
Canavan disease is caused by a deficiency of the enzyme, aspartoacylase (ASPA), which leads to the buildup of N-acetylaspartic acid (NAA) in the brain.
www.canavanfoundation.org /canavan.php   (367 words)

  
 Canavan Disease
Canavan disease is caused by an abnormality in the ASPA gene that leads to a deficiency of the enzyme aspartoacylase.
Canavan disease is inherited as an autosomal recessive genetic disorder.
Canavan disease is inherited as an autosomal recessive genetic trait.
hw.healthdialog.com /kbase/nord/nord157.htm   (1894 words)

  
 Canavan Disease
Canavan disease is an infantile neurodegenerative disease that is caused by mutations in the gene encoding the enzyme aspartoacylase.
Canavan disease is an autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase (ASPA).
Canavan disease, or spongy degeneration of the brain, is a severe leukodystrophy caused by the deficiency of aspartoacylase (ASPA).
www.thedoctorsdoctor.com /diseases/canavan_disease.htm   (3751 words)

  
 [No title]
Gaucher Disease is transmitted as an autosomal recessive; that is, it occurs equally among males and females, and both parents must carry the mutation for the child to have the disease.
In 1987, it was discovered that children with Canavan disease excrete increased amounts of a compound known as N-acetylaspartic acid (NAA) in their urine, and have deficient activity of the enzyme aspartocylase.
The disease is inherited as an autosomal recessive trait.
www.gaucherdisease.org /faq.txt   (7420 words)

  
 Canavan Disease
Canavan disease is characterized by macrocephaly, lack of head control, and developmental delays by the age of three to five months, severe hypotonia, and failure to achieve independent sitting, ambulation, or speech.
Canavan disease is inherited in an autosomal recessive manner.
Elpeleg ON and Shaag A (1999) The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
www.geneclinics.org /profiles/canavan/details.html   (3655 words)

  
 Canavan Research Illinois - Canavan Disease - Dedicated to Curing Canavan Disease
Canavan disease, formerly known as Canavans disease, is a rare and devastating fatal childhood neurodegenerative disorder.
The children battling Canavan disease are loving and highly social, yet they are trapped in bodies that cannot respond to signals from the brain.
In children afflicted with Canavan disease a gene identified as ASPA is defective.
www.canavanresearch.org /canavans_disease.html   (266 words)

  
 Canavan Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
Canavan disease, one of the most common cerebral degenerative diseases of infancy, is a gene-linked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces.
Canavan disease is one of a group of genetic disorders known as the leukodystrophies.
Canavan disease can be identified by a simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase.
www.ninds.nih.gov /health_and_medical/disorders/canavn_doc.htm   (483 words)

  
 Canavan disease - WrongDiagnosis.com
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).
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.
Canavan disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
www.wrongdiagnosis.com /c/canavan_disease/intro.htm   (594 words)

  
 Tay-Sachs & Canavan Diseases :: What is Canavan Disease?
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.
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.
When both parents are Canavan carriers, each one may transmit the mutated gene to their offspring, in which case the child is born with Canavan disease.
www.tay-sachs.org /canavan.php   (583 words)

  
 Canavan Disease - United Leukodystrophy Foundation
Canavan Disease is progressive, and death will usually occur within the first two decades of life.
If the NAA is not broken down (as in Canavan disease), the excess levels of NAA lead to an increase in osmotic pressure in certain types of brain cells and causes demyelination..
Although Canavan Disease is the most common term used to describe this leukodystrophy, you may encounter other names for it.
www.ulf.org /types/Canavan.html   (437 words)

  
 Canavan disease - Wikipedia, the free encyclopedia
This disease is one of a group of genetic disorders called leukodystrophies.
Canavan disease is inherited in an autosomal recessive fashion.
The life expectancy of Canavan patients is not known because new treatments have extended their lives beyond earlier projections.
en.wikipedia.org /wiki/Canavan_disease   (590 words)

  
 [No title]
Summary: Canavan's disease (Canavan-van Bogaert-Bertrand disease) or spongy degeneration of the brain is an autosomal recessive leukodystrophy due to abnormal aspartoacylase.
Canavan's disease is due to deficiency of N-aspartoacylase that catalyses N-acetylaspartic acid into L-aspartic acid and acetate.
Canavan's disease, Alexander disease and Aicardi-Goutières syndrome are the three leukodystrophy that typically present with megalencephaly.
moon.ouhsc.edu /kfung/JTY1/NeuroHelp/ZNF2IE01.htm   (578 words)

  
 Canavan Disease Treatment and Symptoms (via CobWeb/3.1 planetlab2.netlab.uky.edu)   (Site not responding. Last check: 2007-10-12)
Canavan disease is one of a group of genetic disorders called the leukodystrophies.
Canavan disease, one of the most common cerebral degenerative diseases of infancy, is a gene-linked, neurological birth disorder in which the white matter of the brain degener...
Canavan disease, one of the most common cerebral degenerative diseases of infancy, is a gene-linked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue r...
goldbamboo.com.cob-web.org:8888 /topic-t3219.html   (385 words)

  
 Canavan Disease - Health and Medical Information produced by doctors - MedicineNet.com
Canavan disease is a progressive fatal inherited (genetic) disorder of the central nervous system (CNS).
As the disease progresses, convulsions (seizures), shrinkage of the nerve to the eye (optic atrophy) which often causes blindness, heartburn (gastrointestinal reflux), and deterioration of swallowing ability develop.
Canavan disease is caused by a deficiency of an enzyme (catalyst) called aspartoacylase.
www.medicinenet.com /canavan_disease/article.htm   (357 words)

  
 Daily Herald Article
Max has Canavan disease, meaning he is missing the gene that produces myelin, a protective sheath around the nerves in the brain.
Children with Canavan disease are profoundly disabled and usually die by the age of 10.But Max has a little hope now.
With NBC "Dateline" cameras rolling for a one-hour program on Canavan disease and Max to be broadcast this fall, Leone pushed the button on the pump to introduce the 0.9 cc's of gene-laden liquid into six sites in his brain.
www.canavandisease.org /Daily_Herald.html   (529 words)

  
 Canavan Disease - Information and Support Resources
Canavan is an inherited disease which is due to lack of substance in the body called aspartoacylase (ASPA).
Prenatal diagnosis for Canavan can be attained with the use of CVS (chorionic villus sampling) or amniocentesis, which are performed early in the pregnancy.
Canavan Research Illinois is exceptionally responsive to the Canavan families, physicians, and researchers that contact the charity.
www.mazornet.com /genetics/canavan.asp   (522 words)

  
 Canavan disease
Canavan disease is an inherited disorder of aspartic acid metabolism.
It is characterized by degeneration of the white matter of the brain.
Canavan disease is inherited as an autosomal recessive trait.
www.umm.edu /ency/article/001586.htm   (277 words)

  
 Hunter's Hope: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.
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 Canavan gene has been identified, allowing at-risk couples to carrier test for this deadly disease.
www.huntershope.org /krabbe/other_leukos/canavan.asp   (297 words)

  
 Canavan disease
Children with Canavan disease have a deficiency of the enzyme aspartoacylase, which causes the chemical compound N-acetyl-L-aspartic acid, or NAA, to accumulate in the brain, Mandel said.
Further, the strategy to deliver the corrective gene via the adeno-associated virus may be used to correct many other diseases.” Currently, there is no cure for Canavan disease, which usually becomes apparent when infants are 3 to 9 months old.
Canavan’s disease is extremely challenging because you have to fix the problem in the whole brain, unlike Parkinson’s disease, where only a small region of the brain is affected.
www.ufgi.ufl.edu /UFGInews/canavan.htm   (704 words)

  
 Einstein - Canavan Disease
Canavan disease is a severe degenerative disease of the central nervous system.
Canavan disease is caused by the lack of a substance called aspartoacylase (ASPA).
Research is presently being conducted to determine the safety and efficacy of gene therapy for this disorder.
www.einstein.edu /yourhealth/genetic/jewishgenetic/article8412.html   (316 words)

  
 Canavan Disease Patient Case
Canavan is a recessive genetic disease that will strike on average 1 of 4 children of couples when both parents carry a gene mutation that causes the disease.
It is a degenerative spongiform brain disease that irreversibly leads to loss of body control and death, usually before the teen years.
It was at MCH, in the early 1990s, that Matalon’s laboratory misdiagnosed 4 pregnancies that resulted in the birth of children with Canavan disease.
www.bioethics.upenn.edu /prog/benefit/canavanA.shtml   (480 words)

  
 Ashkenazi Jews Should Be Screened for Canavan Disease
Prospective Jewish parents have another disease they should be screened for: Canavan Disease, a fatal genetic childhood disease for which there is no known cure.
As with Tay-Sachs disease, another fatal genetic disorder, screening requires only a small blood sample that is evaluated by a laboratory with expertise in genetic testing and counseling.
Canavan disease starts manifesting itself in early infancy with low overall muscle tone and lack of head control.
generationj.com /archive/health/canavan.html   (396 words)

  
 Canavan disease - Genetics Home Reference   (Site not responding. Last check: 2007-10-12)
The signs and symptoms of this disease usually begin in early infancy; however, the course of the condition can be quite variable.
Mutations in the ASPA gene cause Canavan disease.
You might also find information on treatment of Canavan disease in Educational resources and Patient support.
ghr.nlm.nih.gov /condition=canavandisease   (631 words)

  
 Canavan disease (Disease)... Fort Lauderdale, Florida   (Site not responding. Last check: 2007-10-12)
Canavan disease is an inherited disorder of aspartic acidmetabolism that is characterized by degeneration of the white matter of the brain.
Canavan disease is inherited as an autosomal recessive trait and has a higher incidence among Ashkenazi Jews than the general population.
Genetic counseling is recommended for prospective parents with a family history of Canavan disease.
www.browardhealth.org /15991.cfm   (355 words)

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