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References

These sources were used to develop the Genetics Home Reference condition summary on Tay-Sachs disease.

Chavany C, Jendoubi M. Biology and potential strategies for the treatment of GM2 gangliosidoses. Mol Med Today. 1998 Apr;4(4):158-65. Review. PubMed citation
Fernandes Filho JA, Shapiro BE. Tay-Sachs disease. Arch Neurol. 2004 Sep;61(9):1466-8. Review. No abstract available. PubMed citation
Gene Review
Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics. 2006 Nov;118(5):e1550-62. Epub 2006 Oct 2. Review. Erratum in: Pediatrics. 2007 Oct;120(4):936. PubMed citation
Mahuran DJ. Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):105-38. Review. PubMed citation
Montalvo AL, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG. Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. Hum Mutat. 2005 Sep;26(3):282. PubMed citation
Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med. 2005 Feb;7(2):119-23. PubMed citation

Reviewed: September 2008

Published: November 20, 2009