Tay-Sachs Disease

"Tay-Sachs Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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.

Descriptor ID	D013661
MeSH Number(s)	C10.228.140.163.100.435.825.300.300.500 C16.320.565.189.435.825.300.300.500 C16.320.565.398.641.803.350.300.850 C16.320.565.595.554.825.300.300.840 C18.452.132.100.435.825.300.300.500 C18.452.584.687.803.350.300.850 C18.452.648.189.435.825.300.300.500 C18.452.648.398.641.803.350.300.850 C18.452.648.595.554.825.300.300.840
Concept/Terms	Tay-Sachs Disease Tay-Sachs Disease Tay Sachs Disease GM2 Gangliosidosis, Type I Tay-Sachs Disease, B Variant Tay Sachs Disease, B Variant GM2-Gangliosidosis, Type I Type I GM2-Gangliosidosis B Variant GM2 Gangliosidosis B Variant GM2-Gangliosidosis B Variant GM2-Gangliosidoses GM2-Gangliosidosis, B Variant Deficiency Disease Hexosaminidase A G(M2) Gangliosidosis, Type I Gangliosidosis G(M2), Type I Gangliosidosis GM2 , Type 1 Gangliosidosis GM2, B Variant Gangliosidosis GM2, Type I GM2 Gangliosidosis, B Variant GM2 Gangliosidosis, Type 1 Hexosaminidase A Deficiency Disease Sphingolipidosis, Tay-Sachs Sphingolipidosis, Tay Sachs Tay-Sachs Sphingolipidosis Hexosaminidase alpha-Subunit Deficiency (Variant B) Hexosaminidase alpha-Subunit Deficiency (Variant B) Deficiency, Hexosaminidase alpha-Subunit (Variant B) Hexosaminidase alpha Subunit Deficiency (Variant B) Hexosaminidase A Deficiency Deficiency, Hexosaminidase A HexA Deficiency Amaurotic Familial Idiocy Amaurotic Familial Idiocy Familial Amaurotic Idiocy Amaurotic Idiocy, Familial

Below are MeSH descriptors whose meaning is more general than "Tay-Sachs Disease".

Diseases [C]
Nervous System Diseases [C10]
Central Nervous System Diseases [C10.228]
Brain Diseases [C10.228.140]
Brain Diseases, Metabolic [C10.228.140.163]
Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
Sphingolipidoses [C10.228.140.163.100.435.825]
Gangliosidoses [C10.228.140.163.100.435.825.300]
Gangliosidoses, GM2 [C10.228.140.163.100.435.825.300.300]
Tay-Sachs Disease [C10.228.140.163.100.435.825.300.300.500]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Brain Diseases, Metabolic, Inborn [C16.320.565.189]
Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
Sphingolipidoses [C16.320.565.189.435.825]
Gangliosidoses [C16.320.565.189.435.825.300]
Gangliosidoses, GM2 [C16.320.565.189.435.825.300.300]
Tay-Sachs Disease [C16.320.565.189.435.825.300.300.500]
Lipid Metabolism, Inborn Errors [C16.320.565.398]
Lipidoses [C16.320.565.398.641]
Sphingolipidoses [C16.320.565.398.641.803]
Gangliosidoses [C16.320.565.398.641.803.350]
Gangliosidoses, GM2 [C16.320.565.398.641.803.350.300]
Tay-Sachs Disease [C16.320.565.398.641.803.350.300.850]
Lysosomal Storage Diseases [C16.320.565.595]
Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
Sphingolipidoses [C16.320.565.595.554.825]
Gangliosidoses [C16.320.565.595.554.825.300]
Gangliosidoses, GM2 [C16.320.565.595.554.825.300.300]
Tay-Sachs Disease [C16.320.565.595.554.825.300.300.840]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Brain Diseases, Metabolic [C18.452.132]
Brain Diseases, Metabolic, Inborn [C18.452.132.100]
Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
Sphingolipidoses [C18.452.132.100.435.825]
Gangliosidoses [C18.452.132.100.435.825.300]
Gangliosidoses, GM2 [C18.452.132.100.435.825.300.300]
Tay-Sachs Disease [C18.452.132.100.435.825.300.300.500]
Lipid Metabolism Disorders [C18.452.584]
Lipidoses [C18.452.584.687]
Sphingolipidoses [C18.452.584.687.803]
Gangliosidoses [C18.452.584.687.803.350]
Gangliosidoses, GM2 [C18.452.584.687.803.350.300]
Tay-Sachs Disease [C18.452.584.687.803.350.300.850]
Metabolism, Inborn Errors [C18.452.648]
Brain Diseases, Metabolic, Inborn [C18.452.648.189]
Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
Sphingolipidoses [C18.452.648.189.435.825]
Gangliosidoses [C18.452.648.189.435.825.300]
Gangliosidoses, GM2 [C18.452.648.189.435.825.300.300]
Tay-Sachs Disease [C18.452.648.189.435.825.300.300.500]
Lipid Metabolism, Inborn Errors [C18.452.648.398]
Lipidoses [C18.452.648.398.641]
Sphingolipidoses [C18.452.648.398.641.803]
Gangliosidoses [C18.452.648.398.641.803.350]
Gangliosidoses, GM2 [C18.452.648.398.641.803.350.300]
Tay-Sachs Disease [C18.452.648.398.641.803.350.300.850]
Lysosomal Storage Diseases [C18.452.648.595]
Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
Sphingolipidoses [C18.452.648.595.554.825]
Gangliosidoses [C18.452.648.595.554.825.300]
Gangliosidoses, GM2 [C18.452.648.595.554.825.300.300]
Tay-Sachs Disease [C18.452.648.595.554.825.300.300.840]

Below are MeSH descriptors whose meaning is related to "Tay-Sachs Disease".

Below are MeSH descriptors whose meaning is more specific than "Tay-Sachs Disease".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Tay-Sachs Disease" by people in this website by year, and whether "Tay-Sachs Disease" was a major or minor topic of these publications.

Bar chart showing 5 publications over 4 distinct years, with a maximum of 2 publications in 2020

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2017	1	0	1
2020	1	1	2
2021	1	0	1
2022	1	0	1

Below are the most recent publications written about "Tay-Sachs Disease" by people in Profiles.

Flotte TR, Cataltepe O, Puri A, Batista AR, Moser R, McKenna-Yasek D, Douthwright C, Gernoux G, Blackwood M, Mueller C, Tai PWL, Jiang X, Bateman S, Spanakis SG, Parzych J, Keeler AM, Abayazeed A, Rohatgi S, Gibson L, Finberg R, Barton BA, Vardar Z, Shazeeb MS, Gounis M, Tifft CJ, Eichler FS, Brown RH, Martin DR, Gray-Edwards HL, Sena-Esteves M. AAV gene therapy for Tay-Sachs disease. Nat Med. 2022 02; 28(2):251-259.

View in: PubMed
Story B, Taghian T, Gallagher J, Koehler J, Taylor A, Randle A, Nielsen K, Gross A, Maguire A, Carl S, Johnson S, Fernau D, Diffie E, Cuddon P, Corado C, Chandra S, Sena-Esteves M, Kolodny E, Jiang X, Martin D, Gray-Edwards H. Natural history of Tay-Sachs disease in sheep. Mol Genet Metab. 2021 Sep-Oct; 134(1-2):164-174.

View in: PubMed
Lahey HG, Webber CJ, Golebiowski D, Izzo CM, Horn E, Taghian T, Rodriguez P, Batista AR, Ellis LE, Hwang M, Martin DR, Gray-Edwards H, Sena-Esteves M. Pronounced Therapeutic Benefit of a Single Bidirectional AAV Vector Administered Systemically in Sandhoff Mice. Mol Ther. 2020 10 07; 28(10):2150-2160.

View in: PubMed
Taghian T, Horn E, Shazeeb MS, Bierfeldt LJ, Tuominen SM, Koehler J, Fernau D, Bertrand S, Frey S, Cataltepe OI, Gounis MJ, Abayazeed AH, Flotte TR, Sena-Esteves M, Gray-Edwards HL. Volume and Infusion Rate Dynamics of Intraparenchymal Central Nervous System Infusion in a Large Animal Model. Hum Gene Ther. 2020 06; 31(11-12):617-625.

View in: PubMed
Gray-Edwards HL, Randle AN, Maitland SA, Benatti HR, Hubbard SM, Canning PF, Vogel MB, Brunson BL, Hwang M, Ellis LE, Bradbury AM, Gentry AS, Taylor AR, Wooldridge AA, Wilhite DR, Winter RL, Whitlock BK, Johnson JA, Holland M, Salibi N, Beyers RJ, Sartin JL, Denney TS, Cox NR, Sena-Esteves M, Martin DR. Adeno-Associated Virus Gene Therapy in a Sheep Model of Tay-Sachs Disease. Hum Gene Ther. 2018 03; 29(3):312-326.

View in: PubMed

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