The effect of MAPT H1 and APOE ε4 on transition from mild cognitive impairment to dementia

Journal of Alzheimer's Disease

Volumn 22, Issue 4, 2010, Pages 1065-1071

  Samaranch, Lluís ^a   Cervantes, Sebastián ^a,b   Barabash, Ana ^c   Alonso, Alvaro ^d   Cabranes, José Antonio ^c   Lamet, Isabel ^b   Ancín, Inés ^c   Lorenzo, Elena ^a   Martínez Lage, Pablo ^e   Marcos, Alberto ^c   Clarimón, Jordi ^f,g   Alcolea, Daniel ^f,g   Lleó, Alberto ^f,g   Blesa, Rafael ^f,g   Gómez Isla, Teresa ^f,g   Pastor, Pau ^a,b,g  

^a UNIVERSITY OF NAVARRA   (Spain)

^b UNIVERSITY CLINIC OF NAVARRA   (Spain)

^c HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^d UNIVERSITY OF MINNESOTA   (United States)

^e Fundacion CITA Alzheimer   (Spain)

^f HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^g INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Alzheimer's disease; APOE; genetics; interaction; MAPT; microtubule associated tau protein; mild cognitive impairment

Indexed keywords

AMYLOID BETA PROTEIN; APOLIPOPROTEIN E4; TAU PROTEIN;

AGED; ALLELE; ARTICLE; COGNITION; CONTROLLED STUDY; DEMENTIA; DISEASE ASSOCIATION; DISEASE COURSE; FEMALE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MALE; MILD COGNITIVE IMPAIRMENT; PRIORITY JOURNAL; PROSPECTIVE STUDY;

EID: 79751476762     PISSN: 13872877     EISSN: None     Source Type: Journal    
DOI: 10.3233/JAD-2010-101011     Document Type: Article

References (38)

1. Petersen RC, Smith GE, Waring SC, Ivnik RJ, Tangalos EG, Kokmen E (1999) Mild cognitive impairment: clinical characterization and outcome. Arch Neurol 56, 303-308. (Pubitemid 29120227)
2. Petersen RC (2004) Mild cognitive impairment as a diagnostic entity. J Intern Med 256, 183-194. (Pubitemid 39222988)
3. Petersen RC, Roberts RO, Knopman DS, Boeve BF, Geda YE, Ivnik RJ, Smith GE, Jack CR, Jr. (2009) Mild cognitive impairment: ten years later. Arch Neurol 66, 1447-1455.
4. Norrman J, Brookes AJ, Yates C, St Clair D (1995) ApolipoproteinEgenotypeandits effectonduration andsever-ity of early and late onset Alzheimer's disease. Br J Psychiatry 167, 533-536. (Pubitemid 26194158)
5. Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, Roses AD, Haines JL, Pericak-Vance MA (1993) Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261, 921-923. (Pubitemid 23275809)
6. Saunders AM, Strittmatter WJ, Schmechel D, George-Hyslop PH, Pericak-VanceMA, JooSH, Rosi BL, Gusella JF, Crapper-MacLachlan DR, Alberts MJ, et al. (1993) Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology 43, 1467-1472. (Pubitemid 23230526)
7. Okuizumi K, Onodera O, Tanaka H, Kobayashi H, Tsuji S, Takahashi H, Oyanagi K, Seki K, Tanaka M, Naruse S, et al. (1994) ApoE-epsilon 4 and early-onset Alzheimer's. Nat Genet 7, 10-11.
8. Blacker D, Haines JL, Rodes L, Terwedow H, Go RC, Har-rell LE, Perry RT, Bassett SS, Chase G, Meyers D, Albert MS, Tanzi R (1997) ApoE-4 and age at onset of Alzheimer's disease: the NIMH genetics initiative. Neurology 48, 139-147. (Pubitemid 27039532)
9. Barabash A, Marcos A,Ancin I,Vazquez-Alvarez B,deUgarte C, Gil P, Fernandez C, Encinas M, Lopez-Ibor JJ, Cabranes JA (2007) APOE, ACT and CHRNA7 genes in the conver sion from amnestic mild cognitive impairment to Alzheimer's disease. Neurobiol Aging 30, 1254-1264
10. Tervo S, Kivipelto M, Hanninen T, Vanhanen M, Hallikainen M, Mannermaa A, Soininen H (2004) Incidence and risk factors for mild cognitive impairment: a population-based three-year follow-up study of cognitively healthy elderly subjects. Dement Geriatr Cogn Disord 17, 196-203. (Pubitemid 38339747)
11. Herukka SK, Helisalmi S, Hallikainen M, Tervo S, Soininen H, Pirttila T (2007) CSF Abeta42, Tau and phosphorylated Tau, APOE epsilon4 allele and MCI type in progressive MCI. Neurobiol Aging 28, 507-514.
12. Petersen RC, Smith GE, Ivnik RJ, Tangalos EG, Schaid DJ, Thibodeau SN, Kokmen E, Waring SC, Kurland LT (1995) Apolipoprotein E status as a predictor of the development of Alzheimer's disease in memory-impaired individuals. JAMA 273, 1274-1278.
13. Fleisher AS, Sowell BB, Taylor C, Gamst AC, Petersen RC, Thal LJ (2007) Clinical predictors of progression to Alzheimer disease in amnestic mild cognitive impairment. Neurology 68, 1588-1595. (Pubitemid 46717983)
14. Blom ES, Giedraitis V,Zetterberg H,Fukumoto H,Blennow K, Hyman BT, Irizarry MC, Wahlund LO, Lannfelt L, Ingelsson M (2009) Rapid progression from mild cognitive impairment to Alzheimer's disease in subjects with elevated levels of tau in cerebrospinal fluid and the APOE epsilon4/epsilon4 genotype. Dement Geriatr Cogn Disord 27, 458-464.
15. Kosik KS, Joachim CL, Selkoe DJ (1986) Microtubule-associated protein tau (tau) is a major antigenic component of paired helical filaments in Alzheimer disease. Proc Natl Acad Sci U S A 83, 4044-4048. (Pubitemid 16062419)
16. Conrad C, Andreadis A, Trojanowski JQ, Dickson DW, Kang D, Chen X, Wiederholt W, Hansen L, Masliah E, Thal LJ, Katzman R, Xia Y, Saitoh T (1997) Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol 41, 277-281. (Pubitemid 27082112)
17. Di Maria E, Tabaton M, Vigo T, Abbruzzese G, Bellone E, Donati C, Frasson E, Marchese R, Montagna P, Munoz DG, Pramstaller PP, Zanusso G, Ajmar F, Mandich P (2000) Cor-ticobasal degeneration shares a common genetic background with progressive supranuclear palsy. Ann Neurol 47, 374-377. (Pubitemid 30141849)
18. Pastor P, Ezquerra M, Munoz E, Marti MJ, Blesa R, Tolosa E, Oliva R (2000) Significant association between the tau gene A0/A0 genotype and Parkinson's disease. Ann Neurol 47, 242-245. (Pubitemid 30078573)
19. Di Maria E, Cammarata S, Parodi MI, Borghi R, Benussi L, Galli M, Galimberti D, Ghidoni R, Gonella D, Novello C, Pollero V, Perroni L, Odetti P,Scarpini E, Binetti G,Tabaton M (2010) The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment. J Alzheimers Dis 19, 909-914.
20. American Psychiatric Association. Diagnostic and statistical manual of mental disorders (4th ed.) Washington, DC: American Psychiatric Association, 1994.
21. Koch W, Ehrenhaft A, Griesser K, Pfeufer A, Muller J, Schomig A, Kastrati A (2002) TaqMan systems for genotyp-ing of disease-related polymorphisms present in the gene encoding apolipoprotein E. Clin Chem Lab Med 40, 1123-1131. (Pubitemid 36032659)
22. Cruchaga C, Vidal-Taboada JM, Ezquerra M, Lorenzo E, Martinez-Lage P, Blazquez M, Tolosa E, Pastor P (2009) 5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration. Neurobiol Dis 33, 164-170.
23. Pastor P, Roe CM, Villegas A, Bedoya G, Chakraverty S, Garcia G, Tirado V, Norton J, Rios S, Martinez M, Kosik KS, Lopera F, Goate AM (2003) Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred. Ann Neurol 54, 163-169. (Pubitemid 36909615)
24. Kryscio RJ, Schmitt FA, Salazar JC, Mendiondo MS, Markes-bery WR (2006) Risk factors for transitions from normal to mild cognitive impairment and dementia. Neurology 66, 828-832. (Pubitemid 43739755)
25. Braak H, Braak E (1996) Evolution of the neuropathology of Alzheimer's disease. Acta Neurol Scand Suppl 165, 3-12. (Pubitemid 26143161)
26. Holzer M, Holzapfel HP, Zedlick D, Bruckner MK, Arendt T (1994) Abnormally phosphorylated tau protein in Alzheimer's disease: heterogeneity of individual regional distribution and relationship to clinical severity. Neuroscience 63, 499-516.
27. Myers AJ, Kaleem M, Marlowe L, Pittman AM, Lees AJ, Fung HC, Duckworth J, Leung D, Gibson A, Morris CM, de Silva R, Hardy J (2005) The H1c haplotype at the MAPT locus is associated with Alzheimer's disease. Hum Mol Genet 14, 2399-2404. (Pubitemid 41418001)
28. Mukherjee O, Kauwe JS, Mayo K, Morris JC, Goate AM (2007) Haplotype-based association analysis of the MAPT locus in late onset Alzheimer's disease. BMC Genet 8, 3.
29. Myers AJ, Pittman AM, Zhao AS, Rohrer K, Kaleem M, Marlowe L, Lees A, Leung D, McKeith IG, Perry RH, Morris CM, Trojanowski JQ, Clark C, Karlawish J, Arnold S, Forman MS, Van Deerlin V, de Silva R, Hardy J (2007) The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiol Dis 25, 561-570.
30. Chambers CB, Lee JM, Troncoso JC, Reich S, Muma NA (1999) Overexpression of four-repeat tau mRNA isoforms in progressive supranuclear palsy but not in Alzheimer's disease. Ann Neurol 46, 325-332. (Pubitemid 29416270)
31. Fujino Y, Wang DS, Thomas N, Espinoza M, Davies P, Dick-son DW (2005) Increased frequency of argyrophilic grain disease in Alzheimer disease with 4R tau-specific immunohisto-chemistry. J Neuropathol Exp Neurol 64, 209-214. (Pubitemid 40389229)
32. Petersen RC, Parisi JE, Dickson DW, Johnson KA, Knop-man DS, Boeve BF, Jicha GA, Ivnik RJ, Smith GE, Tangalos EG, Braak H, Kokmen E (2006) Neuropathologic features of amnestic mild cognitive impairment. Arch Neurol 63, 665-672.
33. Pastor P, Ezquerra M, Perez JC, Chakraverty S, Norton J, Racette BA, McKeel D, Perlmutter JS, Tolosa E, Goate AM (2004) Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. Ann Neurol 56, 249-258. (Pubitemid 39037920)
34. Stephan BC, Kurth T, Matthews FE, Brayne C, Dufouil C (2010) Dementia risk prediction in the population: are screening models accurate? Nat Rev Neurol 6, 318-326.
35. LaDu MJ, Falduto MT, Manelli AM, Reardon CA, Getz GS, Frail DE (1994) Isoform-specific binding of apolipoprotein E to beta-amyloid. J Biol Chem 269, 23403-23406.
36. Resende R,Ferreiro E,Pereira C,Oliveira CR(2008)ER stress is involved in Abeta-induced GSK-3beta activation and tau phosphorylation. J Neurosci Res 86, 2091-2099.
37. Ingelson M, Fabre SF, Lilius L, Andersen C, Viitanen M, Almkvist O, Wahlund LO, Lannfelt L (2001) Increased risk for frontotemporal dementia through interaction between tau polymorphisms and apolipoprotein E epsilon4. Neuroreport 12, 905-909. (Pubitemid 32281444)
38. Genis I, Gordon I, Sehayek E, Michaelson DM (1995) Phos- phorylationoftauinapolipoprotein E-deficient mice.Neurosci Lett 199, 5-8.