A novel missense mutation in the presenilin-1 gene in a familial Alzheimer's disease pedigree with abundant amyloid angiopathy

Neuroscience Letters

Volumn 232, Issue 1, 1997, Pages 29-32

  Yasuda, Minoru ^a   Maeda, Kiyoshi ^a   Ikejiri, Yoshitaka ^a   Kawamata, Toshio ^a   Kuroda, Shigetoshi ^b   Tanaka, Chikako ^a  

^a Hyogo Inst Aging Brain Cogn D   (Japan)

^b OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

Alzheimer's disease; Genetics; Pedigree; Point mutation; Presenilin 1

Indexed keywords

PRESENILIN 1; PROTEIN;

ALZHEIMER DISEASE; ARTICLE; CARBOXY TERMINAL SEQUENCE; GENE MUTATION; HUMAN; MISSENSE MUTATION; PATHOGENESIS; PEDIGREE; PRIORITY JOURNAL; VASCULAR AMYLOIDOSIS;

ADULT; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; CEREBRAL ARTERIES; FAMILY HEALTH; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POINT MUTATION; PRESENILIN-1;

EID: 0030819164     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0304-3940(97)00569-7     Document Type: Article

References (18)

1. Chartier-Harlin, M.C., Crawford, F., Houlden, H., Warren, A., Hughes, D., Fidani, L., Goate, A., Rossor, M., Roques, P., Hardy, J. and Mullan, M., Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene, Nature, 353 (1991) 844-846.
2. Doan, A., Thinakaran, G., Borchelt, D.R., Slunt, H.H., Ratovitsky, T., Podlisny, M., Selkoe, D.J., Seeger, M., Gandy, S.E., Price, D.L. and Sisodia, S.S., Protein topology of presenilin 1, Neuron, 17 (1996) 1023-1030.
3. Goate, A., Chartier-Harlin, M.C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Giuffra, L., Haynes, A., Irving, N., James, L., Mant, R., Newton, P., Rooke, K., Roques, P., Talbot, C., Pericak-Vance, M., Roses, A., Williamson, R., Rossor, M., Owen, M. and Hardy, J., Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease, Nature, 349 (1991) 704-706.
4. Hardy, J., Amyloid, the presenilins and Alzheimer's disease, Trends Neurosci., 20 (1997) 154-159.
5. Hutton, M., Busfield, F., Wragg, M., Crook, R., Perez-Tur, J., Clark, R.F., Prihar, G., Talbot, C., Phillips, H., Wright, K., Baker, M., Lendon, C., Duff, K., Martinez, A., Houlden, H., Nichols, A., Karran, E., Roberts, G., Roques, P., Rossor, M., Venter, J.C., Adams, M.D., Cline, R.T., Phillips, C.A., Fuldner, R.A., Hardy, J. and Goate, A., Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease, NeuroReport, 7 (1996) 801-805.
6. Ikeda, M., Shrama, V., Sumi, S.M., Rogaeva, E.A., Poorkaj, P., Sherrington, R., Nee, L., Tsuda, T., Oda, N., Watanabe, M., Aoki, M., Shoji, M., Abe, K., Itoyama, Y., Hirai, S., Schellenberg, G.D., Bird, T.D. and St George-Hyslop, P.H., The clinical phenotype of two missense mutations in the presenilin 1 gene in Japanese patients, Ann. Neurol., 40 (1996) 912-917.
7. Kwok, J.B.J., Taddei, K., Hallupp, M., Fisher, C., Brooks, W.S., Broe, G.A., Hardy, J., Fulham, M.J., Nicholson, G.A., Stell, R., St George-Hyslop, P.H., Fraser, P.E., Kakulas, B., Clarnette, R., Relkin, N., Gandy, S.E., Schofield, P.R. and Martins, R.N., Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype, NeuroReport, 8 (1997) 1537-1542.
8. Larson, E.B., Kukull, W.A. and Katzman, R.L., Cognitive impairment: dementia and Alzheimer's disease, Annu. Rev. Public Health, 13 (1992) 431-449.
9. Levy-Lahad, E., Wasco, W., Poorkaj, P., Romano, D.M., Oshima, J., Pettingell, W.H., Yu, C.E., Jondro, P.D., Schmidt, S.D., Wang, K., Crowley, A.C., Fu, Y.H., Guenette, S.Y., Galas, D., Nemens, E., Wijsman, E.M., Bird, T.D., Schellenberg, G.D. and Tanzi, R.E., Candidate gene for the chromosome 1 familial Alzheimer's disease locus, Science, 269 (1995) 973-977.
10. Mann, D.M., Iwatsubo, T., Cairns, N.J., Lantos, P.L., Nochlin, D., Sumi, S.M., Bird, T.D., Poorkaj, P., Hardy, J., Hutton, M., Prihar, G., Crook, R., Rossor, M.N. and Haltia, M., Amyloid β protein (Aβ) deposition in chromosome 14-linked Alzheimer's disease: predominance of Aβ 42(43), Ann. Neurol., 40 (1996) 149-156.
11. Nochlin, D., van Belle, G., Bird, T.D. and Sumi, S.M., Comparison of the severity of neuropathologic changes in familial and sporadic Alzheimer's disease, Alzheim. Dis. Assoc. Dis., 7 (1993) 212-222.
12. Mercken, M., Takahashi, H., Honda, T., Sato, K., Murayama, M., Nakazato, Y., Noguchi, K., Imahori, K. and Takashima, A., Characterization of human presenilin 1 using N-terminal specific monoclonal antibodies: evidence that Alzheimer mutations affect proteolytic processing, FEBS Lett., 389 (1996) 297-303.
13. Murrell, J., Farlow, M., Ghetti, B. and Benson, M.D., A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease, Science, 254 (1991) 97-99.
14. Perez-Tur, J., Froelich, S., Prihar, G., Crook, R., Baker, M., Duff, K., Wragg, M., Busfield, F., Lendon, C., Clark, R.F., Roques, P., Fuldner, R.A., Forsell, C., Axelman, K., Lilius, L., Houlden, H., Karran, E., Roberts, G.W., Rossor, M., Adams, M.D., Hardy, J., Goate, A., Lannfelt, L. and Hutton, M., A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene, NeuroReport, 29 (1995) 297-301.
15. Rogaev, E.I., Sherrington, R., Rogaeva, E.A., Levesque, G., Ikeda, M., Liang, Y., Chi, H., Lin, C., Holman, K., Tsuda, T., Mar, L., Sorbi, S., Nacmias, B., Piacentini, S., Amaducci, L., Chumakov, I., Cohen, D., Lannfelt, L., Fraser, P.E., Rommens, J.M. and St George-Hyslop, P.H., Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene, Nature, 376 (1995) 775-778.
16. Schellenberg, G.D., Anderson, L., O'Dahl, S., Wisjman, E.M., Sadovnick, A.D., Ball, M., Larson, E.B., Kukull, W.A., Martin, G.M., Roses, A.D. and Bird, T.D., APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease, Am. J. Hum. Genet., 49 (1991) 511-517.
17. Sherrington, R., Rogaev, E.I., Liang, Y., Rogaeva, E.A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., Tsuda, T., Mar, L., Foncin, J.F., Bruni, A.C., Montesi, M.P., Sorbi, S., Rainero, I., Pinessi, L., Nee, L., Chumakov, I., Pollen, D., Brookes, A., Sanseau, P., Polinsky, R.J., Wasco, W., Da Silva, H.A.R., Haines, J.L., Pericak-Vance, M.A., Tanzi, R.E., Roses, A.D., Fraser, P.E., Rommens, J.M. and St George-Hyslop, P.H., Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease, Nature, 375 (1995) 754-760.
18. Thinakaran, G., Borchelt, D.R., Lee, M.K., Slunt, H.H., Spitzer, L., Kim, G., Ratovitsky, T., Davenport, F., Nordstedt, C., Seeger, M., Hardy, J., Levey, A.I., Gandy, S.E., Jenkins, N.A., Copeland, N.G., Price, D.L. and Sisodia, S.S., Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo, Neuron, 17 (1996) 181-190.