A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease

Neuroscience Letters

Volumn 234, Issue 1, 1997, Pages 3-6

  Forsell, Charlotte ^a   Froelich, Susanne ^a   Axelman, Karin ^a   Vestling, Monika ^a   Cowburn, Richard F ^a   Lilius, Lena ^a   Johnston, Janet A ^a   Engvall, Benita ^a   Johansson, Kurt ^a   Dahlkild, Åsa ^a   Ingelson, Martin ^a   St George Hyslop, Peter H ^b   Lannfelt, Lars ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

Alzheimer's disease; Chromosome 1; Chromosome 14; Mutation screening; Presenilin 1; Presenilin 2; Single strand conformation polymorphism

Indexed keywords

ALZHEIMER DISEASE; ARTICLE; CHROMOSOME 1; CHROMOSOME 14; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN CELL; ONSET AGE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

AGE OF ONSET; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; GENETIC SCREENING; HUMANS; LEUCINE; MEMBRANE PROTEINS; PHENYLALANINE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PRESENILIN-1; PRESENILIN-2; SEQUENCE ANALYSIS, DNA;

EID: 0030777195     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0304-3940(97)00603-4     Document Type: Article

References (15)

1. Axelman, K., Basun, H. and Lannfelt, L., Apolipoprotein E and α1-antichymotrypsin genotypes and age of onset in familial Alzheimer's disease, Alzheim. Dis. Assoc. Dis., (1997) submitted.
2. Clark, R.F., Hutton, M., Fuldner, R.A., Froelich, S., Karran, E., Talbot, C., Crook, R., Lendon, C., Prihar, G., He, C., Korenblat, K., Martinez, A., Wragg, M., Busfield, F., Behrens, M.I., Myers, A., Norton, J., Morris, J., Mehta, N., Pearson, C., Lincoln, S., Baker, M., Duff, K., Zehr, C., Perez-Tur, J., Houlden, H., Ruiz, A., Ossa, J., Lopera, F., Arcos, M., Madrigal, L., Collinge, J., Humphreys, C., Ashworth, A., Sarner, S., Fox, N., Harvey, R., Kennedy, A., Roques, P., Cline, R.T., Philips, C.A., Venter, J.C., Forsell, L., Axelman, K., Lilius, L., Johnston, J., Cowburn, R., Viitanen, M., Winblad, B., Kosik, K., Haltia, M., Poyhonen, M., Dickson, D., Mann, D., Neary, D., Snowden, J., Lantos, P., Lannfelt, L., Rossor, M., Roberts, G.W., Adams, M.D., Hardy, J. and Goate, A., The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families, Nature Genet., 11 (1995) 219-222.
3. Cruts M., Hendriks L., Van Broeckhoven C. The presenilin genes: a new gene family involved in Alzheimer disease pathology. Hum. Mol. Genet. 5:1996;1449-1455.
4. Forsell C., Lannfelt L. Amyloid precursor protein mutation at codon 713 (Ala→Val) does not cause schizophrenia: non-pathogenic variant found at codon 705 (silent). Neurosci. Lett. 184:1995;90-93.
5. 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., Hardy J. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. 349:1991;704-706.
6. Hayashi K., Yandell D.W. How sensitive is SSCP? Hum. Mutat. 2:1993;338-346.
7. Johnston J., Lilius L., Axelman K., Cowburn R., Johansson K., Viitanen M., Winblad B., Lannfelt L. Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene fails to identify new mutations in Swedish Alzheimer's disease patients. Hum. Mol. Genet. 2:1993;1045-1046.
8. Levy-Lahad E., Wijsman E.M., Nemens E., Anderson L., Goddard K.A.B., Weber J.L., Bird T.D., Schellenberg G.D. A familial Alzheimer's disease locus on chromosome 1. Science. 269:1995;970-973.
9. McKhann G., Drachman D., Folstein M., Katzman R., Price D., Stadlan E.M. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ARDRA work group under the auspices of Department of Health and Human Services task force on Alzheimer's disease. Neurology. 34:1984;939-944.
10. Mullan M., Crawford F., Axelman K., Houlden H., Lilius L., Winblad B., Lannfelt L. A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of β-amyloid. Nature Genet. 1:1992;345-347.
11. 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., Placentini S., Amaducci L., Chumakov I., Cohen D., Lannfelt L., Fraser P.E., Rommens J.M., 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.
12. Sandbrink R., Zhang D., Schaeffer S., Masters C.L., Bauer J., Förstl H., Beyreuther K. Missense mutations of the PS-1/S182 gene in German early-onset Alzheimer's disease patients. Ann. Neurol. 40:1996;265-266.
13. Sherrington R., Froelich S., Sorbi S., Campion D., Chi H., Rogaeve E.A., Levesque G., Rogaev E.I., Lin C., Liang Y., Ikeda M., Mar L., Brice A., Agid Y., Percy M.E., Clerget-Darpoux F., Piacentini S., Marcon G., Nacmias B., Amaducci L., Frebourg T., Lannfelt L., Rommens J.M., St George-Hyslop P.H. Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant. Hum. Mol. Genet. 5:1996;985-988.
14. 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.
15. Zhang, D., Sandbrink, R., Tienari, P., Hartmann, T., Bergsdorf, C., Paliga, K., Förstl, H., Masters, C.L. and Beyreuther, K., Polymorphisms of the presenilin 2 gene (PS2, STM2 or E51) in German sporadic Alzheimer's disease patients. In B.S. Jenkins (Ed.), The Fifth International Conference on Alzheimer's Disease and Related Disorders, Osaka, Japan, Vol. 17, Elsevier, New York, 1996, pp. 194-195.