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International Journal of Alzheimer’s Disease
Volume 2010, Article ID 175818, 7 pages
http://dx.doi.org/10.4061/2010/175818
Case Report

Down's Syndrome with Alzheimer's Disease-Like Pathology: What Can It Teach Us about the Amyloid Cascade Hypothesis?

1Department of Pathology, MD Anderson Cancer Institute, 1515 Holcombe Boulevard, Houston, TX 77030, USA
2Department of Pathology and Laboratory Medicine, College of Medicine, University of Cincinnati, MSB, 231 Albert Sabin Way, Cincinnati, OH 45221, USA
3Department of Pediatrics and Internal Medicine, College of Medicine, University of Cincinnati, MSB, 231 Albert Sabin Way, Cincinnati, OH 45221, USA
4Department of Neurosurgery, College of Medicine, University of Cincinnati, 231 Albert Sabin Way, Cincinnati, OH 45221, USA

Received 31 January 2010; Accepted 27 March 2010

Academic Editor: Hyoung-gon Lee

Copyright © 2010 Rania M. Bakkar et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. M. Menendez, “Down syndrome, Alzheimer's disease and seizures,” Brain & Development, vol. 27, no. 4, pp. 246–252, 2005. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  2. M. S. Schweber, “Alzheimer's disease and Down syndrome,” Progress in Clinical and Biological Research, vol. 317, pp. 247–267, 1989. View at Google Scholar
  3. K. A. Gyure, R. Durham, W. F. Stewart, J. E. Smialek, and J. C. Troncoso, “Intraneuronal Aβ-amyloid precedes development of amyloid plaques in Down syndrome,” Archives of Pathology and Laboratory Medicine, vol. 125, no. 4, pp. 489–492, 2001. View at Google Scholar · View at Scopus
  4. J.-N. Octave, “The amyloid peptide and its precursor in Alzheimer's disease,” Reviews in the Neurosciences, vol. 6, no. 4, pp. 287–316, 1995. View at Google Scholar · View at Scopus
  5. G. Evin and A. Weidemann, “Biogenesis and metabolism of Alzheimer's disease Aβ amyloid peptides,” Peptides, vol. 23, no. 7, pp. 1285–1297, 2002. View at Google Scholar
  6. E. R. Vardy, A. J. Catto, and N. M. Hooper, “Proteolytic mechanisms in amyloid-β metabolismml: therapeutic implications for Alzheimer's disease,” Trends in Molecular Medicine, vol. 11, no. 10, pp. 464–472, 2005. View at Google Scholar
  7. L. Barbiero, L. Benussi, R. Ghidoni et al., “BACE-2 is overexpressed in Down's syndrome,” Experimental Neurology, vol. 182, no. 2, pp. 335–345, 2003. View at Publisher · View at Google Scholar · View at Scopus
  8. M. S. Cheon, M. Dierssen, S. H. Kim, and G. Lubec, “Protein expression of BACE1, BACE2 and APP in Down syndrome brains,” Amino Acids, vol. 35, no. 2, pp. 339–343, 2008. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  9. H. G. Lee, X. Zhu, R. J. Castellani, A. Nunomura, G. Perry, and M. A. Smith, “Amyloid-β in Alzheimer disease. The null versus the alternate hypotheses,” Journal of Pharmacology and Experimental Therapeutics, vol. 321, no. 3, pp. 823–829, 2007. View at Google Scholar
  10. J. A. Hardy and G. A. Higgins, “Alzheimer's disease: the amyloid cascade hypothesis,” Science, vol. 256, no. 5054, pp. 184–185, 1992. View at Google Scholar · View at Scopus
  11. J. M. Ringman, C. Diaz-Olavarrieta, Y. Rodriguez et al., “Neuropsychological function in nondemented carriers of presenilin-1 mutations,” Neurology, vol. 65, no. 4, pp. 552–558, 2005. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  12. M. G. Belza and H. Urich, “Cerebral amyloid angiopathy in Down's syndrome,” Clinical Neuropathology, vol. 5, no. 6, pp. 257–260, 1986. View at Google Scholar · View at Scopus
  13. S. S. Mirra, A. Heyman, D. McKeel et al., “The consortium to establish a registry for Alzheimer's disease (CERAD) part II: standardization of the neuropathologic assessment of Alzheimer's disease,” Neurology, vol. 41, no. 4, pp. 479–486, 1991. View at Google Scholar · View at Scopus
  14. H. Braak, I. Alafuzoff, T. Arzberger, H. Kretzschmar, and K. Tredici, “Staging of Alzheimer disease-associated neurofibrillary pathology using paraffin sections and immunocytochemistry,” Acta Neuropathologica, vol. 112, no. 4, pp. 389–404, 2006. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  15. H. Braak, U. Rüb, E. N. H. Jansen Steur, K. Del Tredici, and R. A. I. de Vos, “Cognitive status correlates with neuropathologic stage in Parkinson disease,” Neurology, vol. 64, no. 8, pp. 1404–1410, 2005. View at Google Scholar
  16. B. Rumble, R. Retallack, C. Hilbich et al., “Amyloid A4 protein and its precursor in Down's syndrome and Alzheimer's disease,” The New England Journal of Medicine, vol. 320, no. 22, pp. 1446–1452, 1989. View at Google Scholar
  17. J. E. McKenzie, G. W. Roberts, and M. C. Royston, “Comparative investigation of neurofibrillary damage in the temporal lobe in Alzheimer's disease, Down's syndrome and dementia pugilistica,” Neurodegeneration, vol. 5, no. 3, pp. 259–264, 1996. View at Publisher · View at Google Scholar
  18. M. Sapra and K. Y. Kim, “Anti-amyloid treatments in Alzheimer's disease,” Recent Patents on CNS Drug Discovery, vol. 4, no. 2, pp. 143–148, 2009. View at Google Scholar
  19. H. G. Lee, G. Casadesus, X. Zhu, A. Takeda, G. Perry, and M. A. Smith, “Challenging the amyloid cascade hypothesis: senile plaques and amyloid-β as protective adaptations to Alzheimer disease,” Annals of the New York Academy of Sciences, vol. 1019, pp. 1–4, 2004. View at Google Scholar
  20. M. Williams, “Progress in Alzheimer's disease drug discovery: an update,” Current Opinion in Investigational Drugs, vol. 10, no. 1, pp. 23–34, 2009. View at Google Scholar
  21. R. S. Doody, S. I. Gavrilova, M. Sano et al., “Effect of dimebon on cognition, activities of daily living, behaviour, and global function in patients with mild-to-moderate Alzheimer's disease: a randomised, double-blind, placebo-controlled study,” The Lancet, vol. 372, no. 9634, pp. 207–215, 2008. View at Publisher · View at Google Scholar · View at PubMed
  22. M. G. Sullivan, “Dimebon's effect may challenge amyloid theory,” Clinical Neurology News, vol. 5, no. 7, p. 11, 2009. View at Google Scholar
  23. A. Kowalska, “Genetic basis of neurodegeneration in familial Alzheimer's disease,” Polish Journal of Pharmacology, vol. 56, no. 2, pp. 171–178, 2004. View at Google Scholar
  24. R. Siman, A. G. Reaume, M. J. Savage et al., “Preselinin-1 P264L knock-in mutation: differential effects on aβ production, amyloid deposition, and neuronal vulnerability,” The Journal of Neuroscience, vol. 20, no. 23, pp. 8717–8726, 2000. View at Google Scholar
  25. E. H. Corder, L. Lannfelt, N. Bogdanovic, L. Fratiglioni, and H. Mori, “The role of APOE polymorphisms in late-onset dementias,” Cellular and Molecular Life Sciences, vol. 54, no. 9, pp. 928–934, 1998. View at Publisher · View at Google Scholar
  26. M.-S. Tsai, E.G. Tangalos, R. C. Petersen et al., “Apolipoprotein E: risk factor for Alzheimer disease,” The American Journal of Human Genetics, vol. 54, pp. 643–649, 1994. View at Google Scholar
  27. W. B. Zigman, E. C. Jenkins, B. Tycko, N. Schupf, and W. Silverman, “Mortality is associated with apolipoprotein E ε4 in nondemented adults with Down syndrome,” Neuroscience Letters, vol. 390, no. 2, pp. 93–97, 2005. View at Publisher · View at Google Scholar · View at PubMed
  28. M. D. Kirkitadze and A. Kowalska, “Molecular mechanisms initiating amyloid β-fibril formation in Alzheimer's disease,” Acta Biochimica Polonica, vol. 52, no. 2, pp. 417–423, 2005. View at Google Scholar
  29. M. Ingelsson, H. Fukumoto, K. L. Newell et al., “Early Aβ accumulation and progressive synaptic loss, gliosis, and tangle formation in AD brain,” Neurology, vol. 62, no. 6, pp. 925–931, 2004. View at Google Scholar
  30. J. B. Standridge, “Vicious cycles within the neuropathophysiologic mechanisms of Alzheimer's disease,” Current Alzheimer Research, vol. 3, no. 2, pp. 95–108, 2006. View at Google Scholar
  31. K. Heinitz, M. Beck, R. Schliebs, and J. R. Perez-Polo, “Toxicity mediated by soluble oligomers of β-amyloid(1–42) on cholinergic SN56.B5.G4 cells,” Neurochemistry, vol. 98, no. 6, pp. 1930–1945, 2006. View at Google Scholar
  32. D. Z. Christensen, T. Schneider-Axmann, P. J. Lucassen, T. A. Bayer, and O. Wirths, “Accumulation of intraneuronal Aβ correlates with ApoE4 genotype,” Acta Neuropathologica, vol. 119, no. 5, pp. 555–566.