Genetic study of familial cases of Alzheimer's disease

Acta Biochimica Polonica

Volumn 51, Issue 1, 2004, Pages 245-252

  Kowalska, Anna ^a   Pruchnik Wolińska, Danuta ^b   Florczak, Jolanta ^b   Modestowicz, Renata ^b   Szczech, Józef ^b   Kozubski, Wojciech ^b   Rossa, Grzegorz ^c   Wender, Mieczysław ^d  

^a POLISH ACADEMY OF SCIENCES   (Poland)

^b POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^c Prov Hosp Neurol/Psychiatric Dis   (Poland)

^d MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

Author keywords

Alzheimer's disease; Amyloid precursor protein gene; Dementia; Mutation; Neurodegeneration; presenilin 1 gene; presenilin 2 gene

Indexed keywords

AMYLOID PRECURSOR PROTEIN; PRESENILIN 1; PRESENILIN 2;

ADULT; ALZHEIMER DISEASE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; EARLY DIAGNOSIS; FAMILIAL DISEASE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE TRANSFER; GENETIC ASSOCIATION; GENETIC COUNSELING; GENOME ANALYSIS; HUMAN; NERVE DEGENERATION; PATHOGENESIS; PROTEIN AGGREGATION; TREATMENT PLANNING;

EID: 2342581336     PISSN: 0001527X     EISSN: None     Source Type: Journal    
DOI: 10.18388/abp.2004_3617     Document Type: Article

References (28)

1. Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T. (1999) Early-onset autosomal dominant Alzheimer's disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet.; 65: 664-70.
2. Citron M, Oltersdorf T, Haass C, McConlogue L, Hung AY, Seubert P, Vigo-Pelfrey C, Lieberburg I, Selkoe DJ. (1992) Mutation of the β-amyloid precursor protein in familial Alzheimer's disease increases β-protein production. Nature.; 360: 672-4.
3. Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C. (1998) Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum Mol Genet.; 7: 43-51.
4. Cruts M, Van Broeckhoven C. (1998) Presenilin mutations in Alzheimer's disease. Hum Mutat.; 11: 183-90.
5. Esler WP, Wolfe MS. (2001) A portrait of Alzheimer's secretases - new features and familiar faces. Science.; 293: 1449-54.
6. Hardy J, Higgins GA. (1992) Alzheimer's disease: the amyloid cascade hypothesis. Science.; 256: 184-5.
7. Jarret JT, Lansbury PT Jr. (1993) Seeding "one-dimensional crystallization" of amyloid: A pathogenic mechanism in Alzheimer's disease and scrapie? Cell.; 73: 1055-8.
8. Kamimura K, Tanahashi H, Yamanaka H, Takahashi K, Asada T, Tabira T. (1998) Familial Alzheimer's disease genes in Japanese. J Neurol Sci.; 160: 76-81.
9. Kowalska A. (2003) Amyloid precursor protein gene mutations responsible for early-onset autosomal dominant Alzheimer's disease. Folia Neuropathol.; 41: 43-8.
10. Kowalska A, Florczak J, Pruchnik-Wolinska D, Kraszewski A, Wender M. (1998) Apolipoprotein E genotypes in sporadic early and late-onset Alzheimer's disease. Arch Immunol Therap Exp.; 46: 177-81.
11. Kowalska A, Florczak J, Pruchnik-Wolinska D, Hertmanowska H, Wender M. (1998) Screening for presenilin 1 gene mutations by PCR-SSCP analysis in patients with early-onset Alzheimer's disease. Folia Neuropathol.; 36: 32-7.
12. Kowalska A, Wender M. (1998) Mutations of presenilin genes and their role in pathogenesis of Alzheimer's disease. Neur Neurochir Pol.; 32: 1207-18.
13. Kovacs DM, Fausett HJ, Page KJ, Kim TW, Moir RD, Merriam DE, Hollister RD, Hallmark OG, Mancini R, Felsenstein KM, Hyman BT, Tanzi RE, Wasco W. (1996) Alz heimer-associated presenilin 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells. Nat Med.; 2: 224-9.
14. Levitan D, Greenwald I. (1995) Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans. Proc Natl Acad Sci U S A.; 93: 14940-4.
15. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K, Crowley AC, Fu Y-H, Guenette SY, Galas D, Nemens E, Wijsman EM, Bird TD, Schellenberg GD, Tanzi RE. (1995) Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science.; 269: 973-7.
16. McKhann G, Drachman D, Folstein M. (1984) Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA. Neurology.; 34: 939-44.
17. Niwa M, Sidrauski C, Kaufman RJ, Walter P. (1999) A role for presenilin 1 in nuclear accumulation of Ire1 fragments and induction of mammalian unfolded protein response. Cell.; 99: 691-702.
18. Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St. George-Hyslop P. (2001) Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology.; 57: 621-5.
19. Saunders AM, Strittmatter WJ, Schmechel D, St George-Hyslop PH, Pericak-Vance MA, Joo SH, Rosi BL, Gusella JF, Crapper G, MacLachlan DR, Alberts MJ. (1993) Association of apolipoprotein E allele ε4 with late-onset familial and sporadic Alzheimer's disease. Neurology.; 43: 1467-72.
20. Selkoe DJ. (1998) The cell biology of β-amyloid precursor protein and presenilin in Alzheimer's disease. Trends Cell Biol.; 8: 447-52.
21. Selkoe DJ, Podlisny MB. (2002) Deciphering the genetic basis of Alzheimer's disease. Annu Rev Genomics Hum Genet.; 3: 67-99.
22. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holmn K, Tsuda T, Mar L, Foncin J-F, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HAR, Haines JL, Perical-Vance MA, Tanzi RE, Roses AS, Fraser JM, Rommens JM, St George-Hyslop PH. (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature.; 375: 754-60.
23. Soriano S, Kang DE, Fu M, Pestell R, Chevallier N, Zheng K, Koo EH. (2001) Presenilin 1 negatively regulates β-catenin/ T cell factor/lymphoid enhancer factor-1 signaling independently of β-amyloid precursor protein and notch processing. J Cell Biol.; 152: 785-94.
24. Tanzi RE, Gusella JF, Walkins PC, Bruns GA, St George-Hyslop P, Van Keuren ML, Patterson D, Pagan S, Kurnit DM, Neve RL. (1987) Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science.; 235: 880-4.
25. Tanzi RE, Vaula G, Romano DM, Mortilla M, Huang TL, Tupler RG, Wasco W, Hyman BT, Haines JL, Jenkins BJ, Kalaitsidaki M, Warren AC, McInnis MC, Antonarakis SE, Karlinsky H, Percy ME, Connor L, Growdon J, Crapper-Mclachlan DR, Gusella JF, St George-Hyslop PH. (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: 273-82.
26. Van Broeckhoven C. (1995) Presenilins and Alzheimer's disease. Nat Genet.; 11: 230-2.
27. Wenham PR, Price WH, Blandell G. (1991) Apolipoprotein E genotyping by one-stage PCR. Lancet.; 337: 1158-9.
28. Wragg M, Hutton M, Talbot C. (1996) Genetic association between intronic polymorphism in presenilin 1 gene and late-onset Alzheimer's disease. Alzheimer's disease collaborative group. Lancet.; 347: 509-12.