References
- 1. Neudorfer O, Kolodny EH - Late-onset Tay-Sachs disease. Isr Med Assoc J. 2004 Feb;6(2):107-11.
- 2. Neudorfer O, Pastores GM, Zeng BJ, et al - Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med. 2005 Feb;7(2):119-23.10.1097/01.GIM.0000154300.84107.75
- 3. Osher E, Fattal-Valevski A, Sagie L, et al- Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study. Orphanet J Rare Dis. 2015 Apr 17;10:45.10.1186/s13023-015-0260-7440427425896637
- 4. Maegawa GH, Tropak M, Buttner J, et al- Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. J Biol Chem. 2007 Mar 23;282(12):9150-61.10.1074/jbc.M609304200185192117237499
- 5. Matsuzawa F, Aikawa S, Sakuraba H, et al- Structural basis of the GM2 gangliosidosis B variant. J Hum Genet. 2003;48(11):582-9.10.1007/s10038-003-0082-714577003
- 6. Navon R, Kolodny EH, Mitsumoto H, et al-Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect. Am J Hum Genet. 1990 Apr;46(4):817-21.
- 7. Deik A, Saunders-Pullman R. Atypical presentation of late-onset Tay-Sachs disease. Muscle Nerve. 2014 May;49(5):768-71. doi: 10.1002/mus.24146. Epub 2014 Feb 24.10.1002/mus.24146.Epub2014Feb24
- 8. Jamrozik Z, Lugowska A, Gołębiowski M, Królicki L, Mączewska J, Kuźma-Kozakiewicz M. Late onset GM2 gangliosidosis mimicking spinal muscular atrophy. Gene. 2013 Sep 25;527(2):679-82. doi: 10.1016/j.gene.2013.06.030. Epub 2013 Jun 29.10.1016/j.gene.2013.06.03023820084
- 9. Praline J, Guennoc AM, Vourc’h P, Sedel F, Andres CR, Corcia P. [Late onset Tay-Sachs disease may mimic adult SMA]. Rev Neurol (Paris). 2011 Jun-Jul;167(6-7):549-50. doi: 10.1016/j.neurol.2011.01.002. Epub 2011 Apr 8.10.1016/j.neurol.2011.01.002.Epub2011Apr8
- 10. Steiner KM, Brenck J, Goericke S, Timmann D. Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations. BMJ Case Rep. 2016 Mar 31;2016. pii: bcr2016214634. doi: 10.1136/bcr-2016-21463410.1136/bcr-2016-214634484077927033294
- 11. Streifler JY, Gornish M, Hadar H, et al-Brain imaging in late-onset GM2 gangliosidosis. Neurology. 1993 Oct;43(10):2055-8.10.1212/WNL.43.10.20558413966
- 12. Godeiro-Junior C, Felicio AC, Benites V, Chieia MA, Oliveira AS. Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis. Arq Neuropsiquiatr. 2009 Mar;67(1):105-6.10.1590/S0004-282X200900010002419330222
- 13. Shapiro BE, Hatters-Friedman S, Fernandes-Filho JA, et al-Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatment. Neurology. 2006 Sep 12;67(5):875-7.10.1212/01.wnl.0000233847.72349.b616966555