Tay Sachs disease

Common Name(s)

Tay Sachs disease, Tay-Sachs Disease

Tay-Sachs disease is a rare inherited condition that gets worse with time (progressive). Tay-Sachs disease is characterized by the breakdown of the brain and the nerve cells. There are several different forms of Tay-Sachs disease, which differ based on the time of onset and severity. This disease in mostly seen in the Ashkenazi Jew population who descended from Central or Eastern Europe.

The HEXA gene, located on chromosome 15, is responsible for providing the directions to make a particular protein in the cells. When this gene is altered (mutated), the intended protein doesn’t function properly, and results in a buildup of a toxic chemical in the brain and spinal cord. As a result, symptoms begin to develop that may include deafness or blindness, decreased muscle tone, paralysis, seizures, developmental delays, and a cherry-red spot visible on the eyes.

This condition is inherited (passed through families) in an autosomal recessive manner. We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers, their children have a one in four chance (25%) of having the disease.

Tay-Sachs disease is a very serious condition that is unfortunately fatal. Although there is currently no cure, there is research underway to help improve the quality of life in addition to extending the individual’s life expectancy. Doctors seek help from various therapists and community services to provide support and care for families. Talk with a genetic counselor or specialist if you or someone in your family has been diagnosed with Tay-Sachs disease.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tay Sachs disease" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

Last Updated: 13 May 2014

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tay Sachs disease" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

http://www.ntsad.org

Last Updated: 13 May 2014

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Tay Sachs disease" returned 99 free, full-text research articles on human participants. First 3 results:

Three novel mutations in Iranian patients with Tay-Sachs disease.
 

Author(s): Solmaz Jamali, Nasim Eskandari, Omid Aryani, Shadab Salehpour, Talieh Zaman, Behnam Kamalidehghan, Massoud Houshmand

Journal: Iran. Biomed. J.. 2014 ;18(2):114-9.

 

Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing ...

Last Updated: 12 Feb 2014

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Atypical presentation of late-onset Tay-Sachs disease.
 

Author(s): Andres Deik, Rachel Saunders-Pullman

Journal: Muscle Nerve. 2014 May;49(5):768-71.

 

Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity.

Last Updated: 16 Apr 2014

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Characterization of inducible models of Tay-Sachs and related disease.
 

Author(s): Timothy J Sargeant, Deborah J Drage, Susan Wang, Apostolos A Apostolakis, Timothy M Cox, M Begoña Cachón-González

Journal: PLoS Genet.. 2012 Sep;8(9):e1002943.

 

Tay-Sachs and Sandhoff diseases are lethal inborn errors of acid β-N-acetylhexosaminidase activity, characterized by lysosomal storage of GM2 ganglioside and related glycoconjugates in the nervous system. The molecular events that lead to irreversible neuronal injury accompanied ...

Last Updated: 2 Oct 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Tay Sachs disease" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for GM1/GM2 - Gangliosidoses
 

Status: Recruiting

Condition Summary: Gangliosidosis; GM1-Gangliosidosis; GM2-Gangliosidosis; Hexosaminidase Activator Deficiency; Tay-Sachs Disease, AB Variant; Hexosaminidase A and B Deficiency; Sandhoff Disease

 

Last Updated: 19 Nov 2014

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A Natural History Study of the Gangliosidoses
 

Status: Recruiting

Condition Summary: Tay Sachs Disease; Sandhoff Disease; Late Onset Tay Sachs Disease

 

Last Updated: 4 Dec 2014

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Synergistic Enteral Regimen for Treatment of the Gangliosidoses
 

Status: Recruiting

Condition Summary: GM1 Gangliosidoses; GM2 Gangliosidoses; Tay-Sachs Disease; Sandhoff Disease

 

Last Updated: 3 Dec 2014

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