alzheimers disease, methods and protocols

[...]... severalfold increase in AD in first degree relatives of affected probands and often demonstrating a more pronounced effect in early onset cases (3–10) Although the reported risk varFrom: Methods in Molecular Medicine, Vol.32: Alzheimer’s Disease: Methods and Protocols Edited by: N M Hooper © Humana Press Inc., Totowa, NJ 23 24 Brindle and St George-Hyslop ies between studies van Duijn et al (10) calculated... intron/exon boundaries and the 5' untranslated regions are encoded by a further two exons (54,61) Northern blot analysis demonstrates two mRNA species for PS-1 at approx 2.7 and 7.5kb (54) and two for PS-2 at 2.3 and 2.6 kb (59) and that both messages are present in most tissues In situ hybridization studies show transcripts for PS-1 and PS-2 in neuronal cells of the hippocampus, cerebral cortex, and cerebellum... D., Landon, M., Kidd, M., Lowe, J S., Reynolds G P., and Gardner, A (1986) Monoclonal antibodies raised against a subsequence of senile plaque core protein react with plaque cores, plaque periphery and cerebrovascular amyloid in Alzheimer’s disease Neurosci Lett 68, 252–256 12 Ikeda, S I., Wong, C W., Allsop, D., Landon, M., Kidd, M., and Glenner, G G (1987) Immunogold labeling of cerebrovascular and. .. Gatz, M., and Gergem, A C M (1993) Use of twin cohorts for research in Alzheimer’s disease Neurology 43, 261–267 3 Heston, L L., Mastri, A R., Anderson, E., and White, J (1981) Dementia of the Alzheimer type Clinical genetics, natural history and associated conditions Arch Gen Psych 112, 227–239 4 Thal, L J., Grundman, M., and Klauber, M R (1988) Dementia: characteristics of a referral population and factors... amyloidosis in Alzheimer’s disease, in Amyloid Protein Precursor in Development, Aging and Alzheimer’s Disease (Masters, C L., Beyreuther, K., Trillet, M., and Christen, Y., eds.), Springer-Verlag, Berlin, pp 47–59 77 Multhaup, G., Mechler, H., and Masters, C L (1995) Characterization of the high affinity heparin binding site of the Alzheimer’s disease βA4 amyloid precursor protein (APP) and its enhancement... Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17 Nature 393, 702–705 108 Poorkaj, P., Bird, T D., Wijsman, E., Nemens, E., Garruto, R M., Anderson, L., et al (1998) Tau is a candidate gene for chromosome 17 frontotemporal dementia Ann Neurol 43, 815–825 109 Spillantini, M G., Bird, T D., and Ghetti, B (1998) Frontotemporal dementia and Parkinsonism linked... Gonatas, H K., and Weiss, M (1964) Ultrastructural studies in Alzheimer’s presenile dementia Am J Pathol 44, 269–297 6 Kidd, M (1963) Paired helical filaments in electron microscopy of Alzheimer’s disease Nature 97, 192–193 7 Allsop, D., Landon, M., and Kidd, M (1983) The isolation and amino acid composition of senile plaque core amyloid Brain Res 259, 348–352 8 Selkoe , D J., Ihara, Y., and Salazar,... paired helical filaments in sodium dodecyl sulphate and urea Science 215, 1243–1245 9 Glenner, G G and Wong, C W (1984) Alzheimer’s disease: initial report of the purification and characterisation of a novel cerebrovascular amyloid protein Biochem Biophys Res Commun 120, 885–890 10 Wong, C W., Quaranta, V., and Glenner, G G (1985) Neuritic plaques and cerebrovascular amyloid in Alzheimer’s disease are... vivo and in vitro For example, the PS-1 holoprotein migrates at 43–47 kDa, with proteolyis generating two fragments of 25–28 kDa (amino terminal) and 16–18 kDa (carboxy terminal) 6.2 Functions and Pathogenesis of the Presenilins and Their Mutated Isoforms A potential clue to the function of the presenilins comes from the recognition of strong homology of PS1 to Caenorrhabditis elegans proteins sel-12 and. .. (BCHE) gene was reported by Lehmann and colleagues (106) to be associated with AD in carriers of the Apo ε4 allele The excess of K-variant carriers in LOAD was replicated by Sandbrink et al (107), but they found no major interaction between BCHE-K and ApoE At least two other studies (108,109) have been unable to confirm this association of BCHE-K with sporadic disease, and analysis of the segregation of . h0" alt="" Introduction to Alzheimer’s Disease 1 1 From: Methods in Molecular Medicine , Vol. 32: Alzheimer’s Disease: Methods and Protocols Edited by: N. M. Hooper © Humana Press Inc., Totowa,. feelings of jealousy towards her husband, increased memory impairment, disorientation, hallucinations, and often loud and aggressive behavior. After four and a half years of rapidly dete- riorating. 192–193. 7. Allsop, D., Landon, M., and Kidd, M. (1983) The isolation and amino acid composition of senile plaque core amyloid. Brain Res. 259, 348–352. 8. Selkoe , D. J., Ihara, Y., and Salazar, F. J.