Tay Sachs disease - Factbites

Tay Sachs disease - Factbites
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Topic: Tay Sachs disease

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	Tay-Sachs disease - Wikipedia, the free encyclopedia
		The disease is named after the British ophthalmologist Warren Tay who first described the red spot on the retina of the eye in 1881, and the American neurologist Bernard Sachs who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish (Ashkenazi) population of 1887.
		"Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients".
		The disease results from mutations on chromosome 15 in the HEXA gene encoding the alpha-subunit of the lysosomal enzyme beta-N-acetylhexosaminidase A. This enzyme is necessary for breaking down N-galactosamine from GM2 gangliosides in brain and nerve cells.
	en.wikipedia.org /wiki/Tay-Sachs_disease (1475 words)

	MedlinePlus Medical Encyclopedia: Tay-Sachs disease
		Tay-Sachs disease is caused by a deficiency of hexosaminidase, an enzyme that is important in the metabolism of gangliosides (a type of chemical substance found in nerve tissue).
		Tay-Sachs disease is inherited as a recessive gene, and 1 in 25 members of the Ashkenazi Jewish population carries the gene.
		Tay-Sachs disease is a familial disorder (it affects more than 1 member of a family) that results in early death.
	www.nlm.nih.gov /medlineplus/ency/article/001417.htm (527 words)

	Tay-Sachs disease
		This child will be affected by Tay-Sachs disease (figure D).
		Genetic carriers of Sandhoff disease, a disease with a similar presentation to TSD, are also detected incidentally when testing for TSD since the same enzyme test is involved.
		TSD is caused by inheriting a 'double-dose' of a fault in a gene which codes for the HexA enzyme.
	www.palmslab.com.au /Education/Genetics/taysachs.shtml (889 words)

	Tay-Sachs disease - Genetics Home Reference
		Mutations in the HEXA gene cause Tay-Sachs disease.
		Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord.
		The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds.
	ghr.nlm.nih.gov /condition=taysachsdisease (738 words)

	Tay-Sachs Disease
		Tay-Sachs disease (TSD) is a fatal genetic disorder.
		Your are here: Home > Diseases, Conditions & Injuries > Tay-Sachs Disease
		TSD is caused by the absence of the enzyme hexosaminidase A. This enzyme breaks down GM2.
	www.al-hikmah.org /tay-sachs-disease.asp (300 words)

	Tay-Sachs disease on Encyclopedia.com
		The disease is named for a British ophthalmologist, Warren Tay, who first described the disease, in 1881, and a New York neurologist, Bernard Sachs, who first described the cellular changes and the genetic nature of the disease, in 1887.
		TAY-SACHS DISEASE [Tay-Sachs disease], rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, producing central nervous system degeneration.
		Genetic screening for the disease has been possible since the early 1970s and is encouraged in high-risk populations.
	www.encyclopedia.com /html/t/tay-s1ach.asp (813 words)

	ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Tay-Sachs disease
		Tay-Sachs disease is caused by an deficiency of hexosaminidase, an exzyme that is important in the metabolism of gangliosides (a fatty acid).
		Tay-Sachs disease is inherited as a recessive gene.
		ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Tay-Sachs disease
	www.enlmedical.com /article/001417.htm (269 words)

	© The Centre for Genetics Education
		TSD is most common amongst descendants of Central and Eastern European (Ashkenazi) Jews, although the disease does occur rarely in people from other population groups.
		This condition is named after a physician, Dr Bernard Sachs, who noted in 1887 that a number of children of Central and Eastern Europe (Ashkenazic) Jewish ancestry, who were born with no apparent problems, degenerated physically and mentally and died by the age of about four.
		Prenatal testing for TSD in pregnancy and in association with assisted reproductive technologies such as IVF may be possible (see Genetics Fact Sheets 15 and 16).
	www.genetics.com.au /factsheet/35.htm (1446 words)

	TAY SACHS DISEASE : Contact a Family - for families with disabled children: information on rare syndromes and disorders
		Tay Sachs is a life-threatening, progressive, genetic, lysosomal storage disease.
		Late-Onset Tay Sachs Disease (LOTS) is much less common than the classic infant form of the disease.
		Like all metabolic diseases there is a block because a catalyst or enzyme, necessary to perform essential chemical reactions in the body, is absent or malfunctioning.
	www.cafamily.org.uk /Direct/t15.html (706 words)

	Tay-Sachs Disease
		Tay-Sachs disease is a rare, fatal, hereditary disorder in which large and damaging quantities of a fatty substance called ganglioside GM accumulate in the brain, causing gradual deterioration.
		Although there is little that can be done to prolong or enhance the life of a child stricken with Tay-Sachs disease, there are several steps you can take to minimize the risk of giving life to such a child.
		This disease is caused by the absence of a digestive enzyme called hexosaminidase A (hex A), which is needed to break down certain fatty compounds in the brain.
	www.healthsquare.com /mc/fgmc9049.htm (779 words)

	Tay-Sachs disease - Hutchinson encyclopedia article about Tay-Sachs disease
		Inherited disorder, due to a defective gene, causing an enzyme deficiency that leads to blindness, retardation, and death in infancy.
		This information should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional.
	encyclopedia.farlex.com /Tay-Sachs%20disease (100 words)

	genome.gov Learning About Tay-Sachs Disease
		Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system.
		Tay-Sachs disease is controlled by a pair of genes on chromosome 15 which code for production of the enzyme Hex-A. If either or both Hex-A genes are active, the body produces enough of the enzyme to prevent the abnormal build-up of the GM2 ganglioside lipid.
		There is no cure or effective treatment for Tay-Sachs disease.
	www.genome.gov /10001220 (996 words)

	Tay-Sachs & Canavan Diseases :: What is Tay-Sachs Disease?
		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 baby with Tay-Sachs disease appears healthy at birth, and seems to be developing normally for a few months.
		the fact that there is no family history of Tay-Sachs disease does not lower an individual's risk of being a carrier.
	www.tay-sachs.org /taysachs.php (711 words)

	Medical References: Tay-Sachs Disease
		If only one parent is a carrier, none of their children can have the disease, but each child has a 50-50 chance of inheriting the Tay-Sachs gene and being a carrier.
		Symptoms of classical Tay-Sachs disease first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out and, eventually, becomes blind, paralyzed and unaware of its surroundings.
		Your doctor can tell you where testing is available or you can contact the National Tay-Sachs and Allied Diseases Association for information.
	www.marchofdimes.com /professionals/681_1227.asp (1341 words)

	AllRefer.com - Tay-Sachs disease (Pathology) - Encyclopedia
		The disease is named for a British ophthalmologist, Warren Tay, who first described the disease, in 1881, and a New York neurologist, Bernard Sachs, who first described the cellular changes and the genetic nature of the disease, in 1887.
		Tay-Sachs disease[tA´-saks´] Pronunciation Key, rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, producing central nervous system degeneration.
		You are here : AllRefer.com > Reference > Encyclopedia > Pathology > Tay-Sachs disease
	reference.allrefer.com /encyclopedia/T/Tay-Sach.html (215 words)

	Tay-Sachs disease
		Tay-Sachs disease is a genetic disorder caused by a missing enzyme that results in the accumulation of a fatty substance in the nervous system.
		The genetic defect in Tay-Sachs disease results in the lack of an enzyme called hexosaminidase A. Without this enzyme, gangliosides cannot be degraded.
		Rosebush, Patricia I. "Late-Onset Tay-Sachs Disease Presenting as Catatonic Schizophrenia: Diagnostic and Treatment Issues." Journal of the American Medical Association 274, no. 22 (December 13, 1995): 1744.
	www.healthatoz.com /healthatoz/Atoz/ency/tay-sachs_disease.jsp (886 words)

	GeneDis Tay-Sachs Mutations Web Site
		Tay-Sachs disease is a autosomal recessive, progressive neurodegenerative disorder, caused due to mutations in the HexA gene.
		The mutation tables show the location of the mutation on the cDNA, genomic DNA and protein sequence, the number of exon or intron, the severity of the disease associated with the mutation and a reference in which the mutation was first described.
		A gray-white area around the retinal fovea centralis, due to lipid-laden ganglion cells, leaving a central cherry-red' spot is a typical funduscopic finding.
	life2.tau.ac.il /GeneDis/Tables/Tay_Sachs/tay_sachs.html (404 words)

	Tay-Sachs disease/other
		Sandhoff Disease, Fabry Disease, Gaucher Disease, Niemann-Pick Disease, Canavan Disease, disorders of lipid and sphingloid degradation, mucopolysaccharide degradation, glycoprotein degradation, lysosomal storage, non-lysosomal diseases, and storage disorders
	www.kumc.edu /gec/support/tay-sach.html (72 words)

	NORD - National Organization for Rare Disorders, Inc.
		This is the list of diseases currently covered in the Rare Disease Database.
		Many libraries, schools, universities, and hospitals subscribe to NORD's Rare Disease Database for unlimited access to reports on more than 1,150 diseases.
		Search this database for reports on more than 1,150 diseases.
	rarediseases.org /search/rdbdetail_abstract.html?disname=Tay+Sachs+... (116 words)

	Tay-Sachs Disease / Family Village Library
		The National Tay-Sachs & Allied Diseases Association (NTSAD) is dedicated to the treatment and prevention of Tay-Sachs, Canavan, and related diseases, and to provide information and support services to individuals and families affected by these diseases, as well as the public at large.
		Everyone is invited to participate, however, because diseases common among Jewish people may, and almost always do, affect individuals from all of the world's cultural and ethnic groups.
		This list is a means of networking and communication for individuals concerned with the various genetically-transmitted diseases existing within Jewish populations.
	www.familyvillage.wisc.edu /lib_tays.htm (169 words)

	Tay-Sachs Disease
		Tay-Sachs disease is an inherited condition that usually causes death by the age of three or four.
		Tay-Sachs is marked by developmental problems that start early and gradually get worse.
	www.csmc.edu /5566.html (189 words)

	MedlinePlus: Tay-Sachs Disease
		The primary NIH organization for research on Tay-Sachs Disease is the National Institute of Neurological Disorders and Stroke
		Lipid Storage Diseases (National Institute of Neurological Disorders and Stroke)
		Sandhoff Disease (National Institute of Neurological Disorders and Stroke) - Short Summary
	www.nlm.nih.gov /medlineplus/taysachsdisease.html (171 words)

	Bibliography: Tay Sachs Disease
		Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel.
		Prenatal testing for Tay-Sachs disease in the light of Jewish views regarding abortion.
		Role of the physician in screening for carriers of Tay-Sachs disease.
	www.csu.edu.au /learning/ncgr/gpi/grn/edures/elsi.tc10f.html (1003 words)

	National Tay-Sachs & Allied Diseases Association
		The National Tay-Sachs and Allied Diseases Association (NTSAD) is dedicated to the treatment and prevention of Tay-Sachs, Canavan, and related diseases, and to provide information and support services to individuals and families affected by these diseases, as well as the public at large.
		If you are a newly diagnosed parent or individual, please contact the NTSAD office (800-906-8723 or Info@ntsad.org) to receive a free information packet about Tay-Sachs, Late Onset Tay-Sachs or any allied disease.
		The basis of genetics for the Allied Diseases.
	www.ntsad.org (397 words)

	Tay Sachs Disease
		NOAH > Brain and Nervous System > Specific Nervous System Disorders > Tay Sachs Disease
		All medical information needs to be carefully reviewed with your health care provider.
		DISCLAIMER: NOAH is an information guide only and cannot answer personal health-related or research questions.
	www.noah-health.org /en/bns/disorders/taysachs (73 words)

	What is Batten's Syndrome
		Simultaneously, Terry and Korey and Svennerholm demonstrated a specific ultrastructure and biochemestry for Tay Sachs Disease, and these developments led to the distinct identification and also separation of the NCLs from Tay Sachs Disease by Zeman and Donahue.
		At that time, it was proposed that the Late Infantile (Jansky-Bielschowsky), the Juvenile (Spielmeyer-Vogt), and the adult form (Kufs) were quite different from Tay-Sachs Disease with respect to chemical pathology and ultrastructure and also different from other forms of sphingolipidoses.
		Subsequently, however, the pathomorphological studies of Schaffer made these authors change their minds to the extent that they reclassified their respective observations as variants of Tay-Sachs Disease, which caused confusion, lasting about 50 years.
	www.jordanforbatten.aunz.org /battens_description.htm (73 words)

	OMIM Entry 268800
		Genotyping individuals for Tay-Sachs disease (TSD) is based mainly on the heat lability of beta-hexosaminidase (Hex) A and the heat stability of Hex B. Mutations in the HEXB gene encoding the beta subunits of Hex that result in heat-labile hexosaminidase B thus may lead to erroneous enzymatic genotyping regarding TSD.
		The mucopolysaccharidosis phenotype is not seen in patients with either Tay-Sachs disease or Sandhoff disease and is also not seen in the knockout mice that have been created as a model of these 2 disorders by homozygosity for a defect in either Hexa or Hexb.
		Studies of autopsy samples of brain and spinal cord from human Tay-Sachs and Sandhoff diseases revealed apoptosis in both instances, in keeping with the severe expression of both diseases.
	www.hgmp.mrc.ac.uk /cgi-bin/wrapomim?268800 (73 words)

	Genetic Testing and Breast Cancer: Is a Little Knowledge a Dangerous Thing? - Role-Play Sheet for John - Case Study Collection - National Center for Case Study Teaching in Science
		Tay Sachs is a recessive disease—you need two copies, one from each parent, to get the disease.
		Tay Sachs disease—a genetic disease that can be identified by genetic testing.
		Children born with Tay Sachs, a genetic disease, die by the age of two.
	ublib.buffalo.edu /libraries/projects/cases/genetic_testing/john.html (73 words)

	The DRM WebWatcher: Tay-Sachs Disease
		Tay-Sachs disease (TSD) is a fatal genetic disorder in children that causes progressive destruction of the central nervous system.
		The Association's website includes fact sheets about Tay-Sachs Disease and numerous allied diseases (Late-Onset Tay-Sachs Disease, Sandhoff Disease, Fabry Disease, Gaucher Disease, Niemann-Pick Disease, Canavan Disease), as well as information about the organization, links, and suggested readings.
		NINDS Tay-Sachs Disease Information Page (National Institute of Neurological Disorders and Stroke)
	www.disabilityresources.org /TAY.html (73 words)

	Tay-Sachs Disease
		Sachs also recognized the familial nature of the disorder, and, by observing numerous cases, he noted that most babies with Tay-Sachs disease were of eastern European Jewish origin.
		Bernard Sachs was a New York neurologist whose work several years later provided the first description of the cellular changes in Tay-Sachs disease.
		Tay Sachs is transmitted through hereditary genes from parents to offspring.
	www.mamashealth.com /tay.asp (558 words)

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