CA1 hippocampal neuronal loss in familial Alzheimer's disease presenilin-1 E280A mutation is related to epilepsy

Epilepsia

Volumn 45, Issue 7, 2004, Pages 751-756

  Velez Pardo, Carlos ^a   Arellano, Jon I ^c   Cardona Gomez, Patricia ^a   Jimenez Del Rio, Marlene ^a   Lopera, Francisco ^b   De Felipe, Javier ^c  

^a UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^b Hospital Universitario San Vicente de Paul   (Colombia)

^c INSTITUTO CAJAL   (Spain)

Author keywords

Epilepsy; Familial Alzheimer disease; Hippocampal region; Loss; Presenilin 1 E280A mutation

Indexed keywords

PRESENILIN 1; THIOFLAVINE; THIONINE;

ADOLESCENT; ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; BRAIN DISEASE; CELL LOSS; CELL SUBPOPULATION; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; EPILEPSY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HIPPOCAMPUS; HUMAN; HUMAN TISSUE; MALE; NERVE CELL DEGENERATION; NEUROFIBRILLARY TANGLE; NEUROPATHOLOGY; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SENILE PLAQUE; TEMPORAL LOBE;

ADULT; AGED; ALZHEIMER DISEASE; CELL COUNT; CELL DEATH; COMORBIDITY; EPILEPSY; FAMILY; FEMALE; HIPPOCAMPUS; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NEUROFIBRILLARY TANGLES; NEURONS; PRESENILIN-1; PYRAMIDAL CELLS; SENILE PLAQUES;

EID: 3042731174     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0013-9580.2004.55403.x     Document Type: Article

References (44)

1. Allen SH. Alzheimer's disease: past, present, and future themes. In: Dawbarn D, Allen SJ, eds. Neurobiology of Alzheimer's disease. Oxford: Oxford University Press, 2001:1-32.
2. Reynolds EH. Introduction: epilepsy in the world. Epilepsia 2002;43(suppl 6):1-3.
3. Esiri MM. The neuropathology of Alzheimer's disease. In: Dawbarn D, Allen SJ, eds. Neurobiology of Alzheimer's disease. Oxford: Oxford University Press, 2001:33-53.
4. DeFelipe J. Chandelier cells and epilepsy. Brain 1999;122:1807-22.
5. Hardy J. Genetic dissection of neurodegenerative disease. Clin Neurosci Res 2001;1:1134-41.
6. Clark RF, Hutton M, Fuldner RA, et al. The structure of presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nat Genet 1995;11:219-22.
7. Lendon CL, Martinez A, Behrens IM, et al. E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE allelles. Hum Mutat 1997;10:186-95.
8. Lopera F, Arcos M, Madrigal L, et al. Demencia tipo Alzheimer con agregación familiar en Antioquia, Colombia. Acta Neurol Colombiana 1994;10:173-87.
9. Lopera F, Ardilla A, Martinez A, et al. Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. JAMA 1997;277:793-9.
10. Lemere C, Lopera F, Kosik KS, et al. The E280A presenilin1 Alzheimer mutation produces increased Aβ42 deposition and severe cerebellar pathology. Nat Med 1996;2:1146-50.
11. Sisodia SS, Annaert W, Kim S-H, et al. γ-Secretase: never more enigmatic. Trends Neurosci 2001;24:S2-6.
12. Sisodia S, St. George-Hyslop PH. γ-Secretase, notch, aβ and Alzheimer's disease: where do the presenilins fit in? Nat Rev Neurosci 2002;3:281-90.
13. Selkoe DJ. Alzheimer's disease results from the cerebral accumulation and cytotoxicity of amyloid β-protein. J Alzheimer's Dis 2001;3:75-81.
14. DeLeon MJ, Convit A, Tarshish C, et al. MRI studies of the hippocampal formation: contributions to the early diagnosis of Alzheimer's disease. In: DeLeon MJ, ed. An atlas of Alzheimer's disease. New York: The Parthenon Publishing Group, 1999:31-55.
15. Bobinski M, Wegiel J, Tarnawski M, et al. Relationships between regional neuronal loss and neurofibrillary changes in the hippocampal formation and duration and severity of Alzheimer disease. J Neuropathol Exp Neurol 1997;56:414-20.
16. Bobinski M, de Leon MJ, Tamawski M, et al. Neuronal and volume loss in CA1 of the hippocampal formation uniquely predicts duration and severity of Alzheimer disease. Brain Res 1998;805:267-9.
17. Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30:389-99.
18. Avoli M, Rogawski MA, Avanzini G. Generalized epileptic disorders: an update. Epilepsia 2001;42:445-57.
19. Berkovic SF, Scheffer IE. Genetics of the epilepsies. Epilepsia 2001;42(suppl 5):16-13.
20. Armon C, Peterson GW, Liwnicz BH. Alzheimer's disease underlies some cases of complex partial status epilepticus. J Clin Neurophysiol 2000;17:511-8.
21. Babb TL, Pretorius JK. Pathologic substrates of epilepsy. In: Wyllie E, ed. The treatment of epilepsy: principles and practice. Philadelphia: Lea & Febiger, 1993:55-70.
22. Honavar M, Meldrum BS. Epilepsy. In: Graham DI, Lantos PI, eds. Greenfield's neuropathology. London: Edward Arnold, 1997:931-71.
23. Meldrum BS, Bruton CJ. Epilepsy. 5th ed. London: Edward Arnold, 1992.
24. Mirra SS, Heyman A, McKeel D, et al. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD), part II: standardization of the neurophatologic assessment of Alzheimer's disease. Neurology 1991;41:479-86.
25. West MJ, Gundersen HJ. Unbiased stereological estimation of the number of neurons in the human hippocampus. J Comp Neurol 1990;296:1-22.
26. Velez-Pardo C, Lopera F, Jimenez Del Rio M. DNA damage does not correlate with beta-plaques and neurofibrillary tangles in familial Alzheimer's disease presenilinl [E280A] mutation. J Alzheimer's Dis 2000;2:47-57.
27. Arellano JI, Muñoz A, Ballesteros-Yáñez I, et al. Histopathology and reorganization of chandelier cells in the human epileptic sclerotic hippocampus. Brain 2004;127:45-64.
28. Takao M, Ghetti B, Murrell JR, et al. Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures. J Neuropathol Exp Neurol 2001;60:1137-52.
29. MacDonald RL, Kapur J. Acute cellular alterations in the hippocampus after status epilepticus. Epilepsia 1999;40(suppl 1):S9-20.
30. Lewis J, Dickson DW, Lin WL, et al. Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP. Science 2001;293:1487-91.
31. Gotz J, Chen F, Dorpe JV, et al. Formation of neurofibrillary tangles in P301L tau transgenic mice induced by Aβ42 fibrils. Science 2001;293:1491-5.
32. 2), caspase-3, NF-kappa B, p53 and c-Jun. Neurotoxicology 2002;23:351-65.
33. Geula C, Wu C-K, Saroff D, et al. Aging renders the brain vulnerable to amyloid beta protein β-neurotoxicity. Nat Med 1998;4:827-31.
34. Anderson AJ, Stoltzner S, Lai F, et al. Morphological and biochemical assessment of DNA damage and apoptosis in Down syndrome and Alzheimer's disease, and effect of postmortem tissue archival on TUNEL. Neurobiol Aging 2000;21:511-24.
35. Dragunow M, Faull RL, Lawlor P, et al. In situ evidence for DNA in Huntington's disease and Alzheimer's disease temporal lobes. Neuroreport 1995;6:1053-7.
36. Smale G, Nichols NR, Brady DR, et al. Evidence for apoptotic cell death in Alzheimer's disease. Exp Neurol 1995;133:225-30.
37. Su JH, Anderson AJ, Cummings BJ, et al. Immunohistochemical evidence for apoptosis in Alzheimer's disease. Neuroreport 1994;5:2529-33.
38. Lucassen PJ, Chung WCJ, Kamphorst W, et al. DNA damage distribution in the human brain as shown by in situ end labeling: area-specific differences in aging and Alzheimer's disease in the absence of apoptotic morphology. J Neuropathol Exp Neurol 1997;56:887-900.
39. Stadelman C, Bruck W, Bancher C, et al. Alzheimer disease: DNA fragmentation indicates increased neuronal vulnerability, but not apoptosis. J Neuropathol Exp Neurol 1998;57:456-64.
40. Velez-Pardo C, Tobon S, Lopera F, et al. Ultrastructure evidence of necrotic neural cell death in familial Alzheimer's disease presenilin-1 [E280A] mutation. J Alzheimer's Dis 2001;3:409-15.
41. Fujikawa DG, Shinmei SS, Cai B. Seizure-induced neuronal necrosis: implications for programmed cell death mechanism. Epilepsia 2000;41(suppl 6):S9-13.
42. Cavazos JE, Das I, Sutula TP. Neuronal loss induced in limbic pathways by kindling: evidence for induction of hippocampal sclerosis by repeated brief seizures. J Neurosci 1994;14:3106-21.
43. Kondratyev A, Selby D, Gale K. Status epilepticus leads to the degradation of the endogenous inhibitor of caspase-activated DNase in rats. Neurosci Lett 2002;319:145-8.
44. Sloviter RS. "Epileptic" brain damage in rats induced by sustained electrical stimulation of the perforant path, I: acute electrophysiological and light microscopic studies. Brain Res Bull 1983;10:675-97.