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Screening of amyloid precursor protein gene mutation (APP 717 Val → Ile) in Swedisch families with Alzheimer's disease

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Journal of Neural Transmission - Parkinson's Disease and Dementia Section

Summary

Screening for the APP 717 Val → Ile mutation in the amyloid precursor protein (APP) gene in 34 Swedish families with familial Alzheimer's disease (FAD), 16 sporadic cases of Alzheimer's disease and five patients with Down's syndrome (DS) failed to identify further cases of the mutation. These results suggests that the mutation is rare among Swedish families with Alzheimer's disease. In addition, we summarize present reports of the frequency of the mutation.

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References

  • Chartier-Harlin M-C, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J, Mullan M (1991a) Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene. Nature 353: 844–846

    Google Scholar 

  • Chartier-Harlin M-C, Crawford F, Hamandi K, Mullan M, Goate A, Hardy J, Backhovens H, Martin J-J, Van Broeckhoven C (1991b) Screening for the β-amyloid precursor protein mutation (APP717: Val → Ile) in extended pedigrees with early onset Alzheimer's disease. Neurosci Lett 129: 134–135

    Google Scholar 

  • Crawford F, Hardy J, Mullan M, Goate A, Hughes D, Fidani L, Roques P, Rossor M, Chartier-Harlin M-C (1991) Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the β-amyloid sequence. Neurosci Lett 133: 1–2

    Google Scholar 

  • Fidani L, Rooke K, Chartier-Harlin M-C, Hughes D, Tanzi R, Mullan M, Roques P, Rossor M, Hardy J, Goate A (1992) Screening for mutations in the open reading frame and promoter of the β-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val → Ile. Hum Mol Genet 1: 165–168

    Google Scholar 

  • Goate A, Chartier-Harlin M-C, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving M, 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 (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349: 704–706

    Google Scholar 

  • Kamino K, Orr HT, Payami H, Wijsman EM, Alonso ME, Pulst SM, Anderson L, O'Dahl S, Nemens E, White JA, Sadovnick AD, Ball MJ, Kaye J, Warren A, McInnis M, Antonarakis SE, Korenberg JR, Sharma V, Kukull W, Larson E, Heston LL, Martin GM, Bird TD, Schellenberg GD (1992) Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. Am J Hum Genet 51: 998–1014

    Google Scholar 

  • Karlinsky H, Vaula G, Haines JL, Ridgley J, Bergeron C, Mortilla M, Tupler RG, Percy ME, Robitaille Y, Noldy NE, Yip TCK, Tanzi RE, Gusella JF, Becker R, Berg JM, Crapper McLachlan DR, St George-Hyslop PH (1992) Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the β-amyloid precursor protein gene. Neurology 42: 1445–1453

    Google Scholar 

  • Mullan M, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B, Lannfelt L (1992a) A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of β-amyloid. Nature Genet 1: 345–347

    Google Scholar 

  • Mullan M, Houlden H, Windelspecht M, Fidani L, Lombardi C, Diaz P, Rossor M, Crook R, Hardy J, Duff K, Crawford F (1992b) A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the α1-antichymotrypsin gene. Nature Genet 2: 340–342

    Google Scholar 

  • Murrell J, Farlow M, Ghetti B, Benson MD (1991) A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science 254: 97–99

    Google Scholar 

  • Naruse S, Igarashi S, Aoki K, Kaneko K, Iihara K, Miyatake T, Kobayashi H, Inuzuka T, Shimizu T, Kojima T, Tsuji S (1991) Mis-sense mutation Val → Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. Lancet 337: 978–979

    Google Scholar 

  • Olson MI, Shaw C-M (1969) Presenile dementia and Alzheimer's disease in mongolism. Brain 92: 147–156

    Google Scholar 

  • Pericak-Vance MA, Bebout JL, Gaskell PC Jr, Yamaoka LH, Hung W-Y, Alberts MJ, Walker AP, et al (1991) Linkage studies in familial Alzheimer's disease: evidence for chromosome 19 linkage. Am J Hum Genet 48: 1034–1050

    Google Scholar 

  • Rumble B, Retallack R, Hilbich C, Simms G, Multhaup G, Martins R, Hockey A, Montgomery P, Beyreuther K, Masters CL (1989) Amyloid A4 protein and its precursor in Down's syndrome and Alzheimer's disease. N Engl J Med 320: 1446–52

    Google Scholar 

  • St George-Hyslop P, Haines J, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, Foncin J-F, Montesi M, Bruni A, Sorbi S, Rainero I, Pinessi L, Pollen D, Polinsky R, Nee L, Kennedy J, Macciardi F, Rogaeva E, Liang Y, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R, Tsuda T, Farrer L, Cantu J-M, Duara R, Amaducci L, Bergamini L, Gusella J, Roses A, Crapper McLachlan D (1992) Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nature Genet 2: 330–334

    Google Scholar 

  • Tanzi RE, Hyman BT (1991) Alzheimer's mutation. Nature 350: 564

    Google Scholar 

  • Tanzi RE, Gusella JF, Watkins PC, Bruns GAP, St George-Hyslop P, Van Keuren ML, Patterson D, Pagan S, Kurnit DM, Neve RL (1987) Amyloid β protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science 235: 880–884

    Google Scholar 

  • Tanzi RE, Vaula G, Romano DM, Mortilla M, Huang TL, Tupler RG, Wasco W, Hyman BT, Haines JL, Jenkins BJ, et al (1992) Assessment of amyloid β-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. Am J Hum Genet 51: 273–282

    Google Scholar 

  • Van Broeckhoven C, Backhovens H, Cruts M, De Winter G, Bruyland M, Cras P, Martin J-J (1992) Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3. Nature Genet 2: 335–339

    Google Scholar 

  • Van Duijn CM, Hendriks L, Cruts M, Hardy JA, Hofman A, Van Broeckhoven C (1991) Amyloid precursor protein gene mutation in early-onset Alzheimer's disease. Lancet 337: 978

    Google Scholar 

  • Yoshioka K, Miki T, Katsuya T, Ogihara T, Sakaki Y (1991) The 717Val → Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups. Biochem Biophys Res Commun 178: 1141–1146

    Google Scholar 

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Author notes

  1. B. Winblad

    Present address: Alzheimer's Disease Research Centre, Karolinska Institute, Department of Geriatric Medicine, Huddinge University Hospital, S-141 86, Huddinge, Sweden

Authors and Affiliations

  1. Alzheimer's Disease Research Centre, Karolinska Institute, Department of Geriatric Medicine, Huddinge University Hospital, S-141 86, Huddinge, Sweden

    E. Almqvist, S. Lake, K. Axelman & K. Johansson

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  1. E. Almqvist
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  2. S. Lake
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  3. K. Axelman
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  4. K. Johansson
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  5. B. Winblad
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Almqvist, E., Lake, S., Axelman, K. et al. Screening of amyloid precursor protein gene mutation (APP 717 Val → Ile) in Swedisch families with Alzheimer's disease. J Neural Transm Gen Sect 6, 151–156 (1993). https://doi.org/10.1007/BF02261009

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  • DOI: https://doi.org/10.1007/BF02261009

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