Tay-Sachs Disease

An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
Also Known As:
Amaurotic Familial Idiocy; B Variant GM2 Gangliosidosis; Deficiency Disease Hexosaminidase A; Familial Amaurotic Idiocy; GM2 Gangliosidosis, B Variant; GM2 Gangliosidosis, Type 1; GM2 Gangliosidosis, Type I; Gangliosidosis GM2 , Type 1; Gangliosidosis GM2, Type I; Hexosaminidase A Deficiency; Hexosaminidase alpha-Subunit Deficiency (Variant B); Sphingolipidosis, Tay-Sachs; Amaurotic Idiocy, Familial; Deficiencies, Hexosaminidase A; Deficiencies, Hexosaminidase alpha-Subunit (Variant B); Deficiency, Hexosaminidase A; Deficiency, Hexosaminidase alpha-Subunit (Variant B); Hexosaminidase A Deficiencies; Hexosaminidase alpha Subunit Deficiency (Variant B); Hexosaminidase alpha-Subunit Deficiencies (Variant B); Idiocies, Familial Amaurotic; Sphingolipidosis, Tay Sachs; Tay Sachs Disease; Tay Sachs Disease, B Variant; Tay-Sachs Sphingolipidosis; alpha-Subunit Deficiencies, Hexosaminidase (Variant B); alpha-Subunit Deficiency, Hexosaminidase (Variant B); G(M2) Gangliosidosis, Type I; Gangliosidosis G(M2), Type I; Gangliosidosis GM2, B Variant; Hexosaminidase A Deficiency Disease; Tay-Sachs Disease, B Variant
Networked: 368 relevant articles (2 outcomes, 21 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Lipidoses
2. Sandhoff Disease (Sandhoff's Disease)
3. Metachromatic Leukodystrophy (Sulfatide Lipidosis)
4. Gangliosidoses (Gangliosidosis)
5. Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)


1. Sakuraba, Hitoshi: 6 articles (06/2011 - 01/2003)
2. Tsuji, Daisuke: 5 articles (01/2013 - 03/2007)
3. Itoh, Kohji: 4 articles (06/2011 - 03/2007)
4. Matsuoka, Kazuhiko: 4 articles (06/2011 - 03/2007)
5. Sandhoff, Konrad: 3 articles (09/2015 - 04/2003)
6. Peleg, Leah: 3 articles (01/2015 - 03/2004)
7. Mark, Brian L: 3 articles (01/2012 - 04/2003)
8. Kornreich, Ruth: 3 articles (12/2011 - 11/2009)
9. Topçu, Meral: 3 articles (07/2007 - 02/2003)
10. Ozkara, Hatice Asuman: 3 articles (09/2004 - 04/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Tay-Sachs Disease:
1. Hexosaminidase A (Hex A)IBA
2. beta-N-AcetylhexosaminidasesIBA
3. LipidsIBA
4. Hexosaminidases (Hexosaminidase)IBA
5. G(M2) Ganglioside (Ganglioside GM2)IBA
6. EnzymesIBA
7. RNA (Ribonucleic Acid)IBA
8. Proteins (Proteins, Gene)IBA
9. miglustat (Zavesca)FDA Link
10. SynucleinsIBA

Therapies and Procedures

1. Enzyme Replacement Therapy
2. Transplants (Transplant)
3. Tissue Transplantation
4. Plasmapheresis
5. Lasers (Laser)