Author(s): Bhawana. B. Bhende


DOI: 10.52711/2454-2660.2021.00110   

Address: Bhawana. B. Bhende
Suretech College of Nursing, Nagpur.
*Corresponding Author

Published In:   Volume - 9,      Issue - 4,     Year - 2021

Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord..also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four.It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. There is currently no cure or treatment. Tay- Sachs disease is a rare disease. Other autosomal disorders such as cystic fibrosis and sickle cell anemia are far more common. TSD is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child.

Cite this article:
Bhawana. B. Bhende. Article on Tay-Sachs Disease. International Journal of Nursing Education and Research. 2021; 9(4):475-8. doi: 10.52711/2454-2660.2021.00110

Bhawana. B. Bhende. Article on Tay-Sachs Disease. International Journal of Nursing Education and Research. 2021; 9(4):475-8. doi: 10.52711/2454-2660.2021.00110   Available on:

1.    Genetics Home Reference. October 2012. Archived from the original on 13 May 2017. Retrieved 29 May 2017.
2. disease#1
3. disease/symptoms-causes/syc-20378190
4.    Jump up to:a b Kurreck, Jens; Stein, Cy Aaron (2016). Molecular Medicine: An Introduction. John Wiley & Sons. p. 71. ISBN 978- 3-527-33189-5.
5.    National Institute of Neurological Disorders and Stroke. 14 February 2007. Archived from the original on 27 November 2011. Retrieved 10 May 2007.
6.    Tay-Sachs disease. Genetics Home Reference (GHR). October 2012;
7.    Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. GeneReviews.    August    11,    2011;
8.    Tegay DH. GM2 Gangliosidoses. Medscape Reference. December 11, 2014; overview.
9.    Colaianni A, Chandrasekharan S, Cook-Deegan R (2010). "Impact of Gene Patents and Licensing Practices on Access to Genetic Testing and Carrier Screening for Tay–Sachs and Canavan Disease". Genetics in Medicine. 12 (4 Suppl): S5–S14. doi:10.1097/GIM.0b013e3181d5a669. PMC 3042321. PMID 20393311
10.    Rozenberg R, Pereira Lda V (2001). "The frequency of Tay–Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program". Sao Paulo medical journal [Revista paulista de medicina]. 119 (4): 146–149. doi:10.1590/s1516-31802001000400007. PMID 11500789.
11.    "1,000 New York Irish to get tested for Tay Sachs disease gene". Irish Central. Retrieved 13 February 2020.
12.    McKusick, Victor A; Hamosh, Ada. "Online Mendelian Inheritance in Man". United States National Institutes of Health. Archived from the original on 4 January 2016. Retrieved 24 April 2009.
13.    GM2 Gangliosidoses – Introduction And Epidemiology Archived 2012-04-20 at the Wayback Machine at Medscape. Author: David H Tegay. Updated: Mar 9, 2012
14.    Jump up to:a b Chakravarti A, Chakraborty R (1978). "Elevated frequency of Tay–Sachs disease among Ashkenazic Jews unlikely by genetic drift alone". American Journal of Human Genetics. 30 (3): 256–261. PMC 1685578. PMID 677122.
15.    Jump up to:a b c d Frisch A, Colombo R, Michaelovsky E, Karpati M, Goldman B, Peleg L (March 2004). "Origin and spread of the 1278insTATC mutation causing Tay–Sachs disease in Ashkenazi Jews: Genetic drift as a robust and parsimonious hypothesis". Human Genetics. 114 (4):366–376. doi:10.1007/s00439-003- 10728. PMID 14727180. S2CID 10768286.
16.    Koeslag JH, Schach SR (1984). "Tay–Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease". Annals of Human Genetics. 48 (3): 275–281. doi:10.1111/j.1469- 1809.1984.tb01025.x. PMID 6465844. S2CID 23470984.
17.    Jump up to:a b Risch N, Tang H, Katzenstein H, Ekstein J (2003). "Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection". American Journal of Human Genetics. 72 (4): 812–822. doi:10.1086/373882. PMC 1180346. PMID 12612865.
18.    Slatkin M (2004). "A Population-Genetic Test of Founder Effects and Implications for Ashkenazi Jewish Diseases". American Journal of Human Genetics. 75 (2): 282–293. doi:10.1086/423146. PMC 1216062. PMID 15208782.
19.    Mahuran DJ (1999). "Biochemical consequences of mutations causing the GM2 gangliosidoses". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1455(2–3): 105–138. doi:10.1016/S0925-4439(99)00074-5. PMID 10571007

Recomonded Articles:

Author(s): Vinod V. Bagilkar, Ashwini A. Patil

DOI: 10.5958/2454-2660.2017.00079.5         Access: Open Access Read More

Author(s): Bhawana. B. Bhende

DOI: 10.52711/2454-2660.2021.00110         Access: Open Access Read More

International Journal of Nursing Education and Research (IJNER) is an international, peer-reviewed journal devoted to nursing sciences..... Read more >>>

RNI: Not Available                     
DOI: 10.5958/2231–5713 

Popular Articles

Recent Articles