Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum

American Journal of Human Genetics

Volumn 65, Issue 3, 1999, Pages 664-670

  Campion, Dominique ^a   Dumanchin, Cécile ^a   Hannequin, Didier ^a   Dubois, Bruno ^b   Belliard, Serge ^c   Puel, Michèle ^d   Thomas Anterion, Catherine ^e   Michon, Agnès ^b   Martin, Cosette ^a   Charbonnier, Françoise ^a   Raux, Grégory ^a   Camuzat, Agnès ^b   Penet, Christiane ^b   Mesnage, Valérie ^a   Martinez, Maria ^a   Clerget Darpoux, Françoise ^a   Brice, Alexis ^b   Frebourg, Thierry ^a  

^a INSERM   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^d CHU PURPAN   (France)

^e SERVICE DE NEUROLOGIE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; PRESENILIN 1;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 14; FEMALE; GENE DELETION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIGENE FAMILY; ONSET AGE; PREVALENCE; PRIORITY JOURNAL;

EID: 0033358671     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302553     Document Type: Article

References (42)

1. Aldudo J, Bullido MJ, Arbizu T, Oliva R, Valdivieso F (1998) Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease. Neurosci Lett 240:174-176
2. Ancolio K, Dumanchin C, Barelli H, Warter JM, Brice A, Campion D, Frebourg T, et al (1999) Unusual phenotypic alteration of beta-amyloid precursor protein (betaAPP) maturation by a new Val-715→met beta APP 770 mutation responsible for probable early-onset Alzheimer's disease. Proc Natl Acad Sci USA 96:4119-4124
3. Aoki M, Abe K, Oda N, Ikeda M, Tsuda T, Kanai T, Shoji M, et al (1997) A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI. Neurology 48:1118-1120
4. Axelman K, Basun H, Lannfelt L (1998) Wide range of disease onset in a family with Alzheimer disease and a His163Tyr mutation in the presenilin-1 gene. Arch Neurol 55:698-702
5. Campion D, Brice A, Hannequin D, Charbonnier F, Dubois B, Martin C, Michon A, et al (1996) No founder effect in three novel Alzheimer's disease families with APP717Val→Ile mutation. J Med Genet 33:661-664
6. Campion D, Brice A, Hannequin D, Tardieu S, Dubois B, Calenda A, Brun E, et al (1995a) A large pedigree with early-onset Alzheimer's disease: clinical, neuropathologic and genetic characterisation. Neurology 45:80-85
7. Campion D, Flaman JM, Brice A, Hannequin D, Dubois B, Martin C, Moreau V, et al (1995b) Mutations of the presenilin 1 gene in families with early-onset Alzheimer's disease. Hum Mol Genet 4:2373-2377
8. Campion D, Martinez M, Hannequin D, Brice A, Thomas-Anterion C, Michon A, Babron MC, et al (1995c) Characteristics of familial aggregation in early-onset Alzheimer's disease: evidence of subgroups. Am J Med Genet 60: 221-227
9. Crook R, Ellis R, Shanks M, Thal LJ, Perez-Tur J, Baker M, Hutton M, et al (1997) Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation. Ann Neurol 42: 124-128
10. Crook R, Verkkoniemi A, Perez-Tur J, Mehta N, Baker M, Houlden H, Farrer M, et al (1998) A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat Med 4:452-455
11. Cruts M, Backhovens H, Wang SY, Van Gassen GV, Theuns J, De Jonghe CD, Wehnert A, et al ( 1995) Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3. Hum Mol Genet 4:2363-2371
12. Cruts M, Van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, et al (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
13. Dermaut B, Cruts M, Slooter AJ, Van Gestel S, De Jonghe C, Vanderstichele H, Vanmechelen E, et al (1999) The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease. Am J Hum Genet 64:290-292
14. Dumanchin C, Brice B, Campion D, Hannequin D, Martin C, Moreau V, Agid Y, et al (1998) De nova presenilin 1 mutations are rare in clinically sporadic early-onset Alzheimer's disease cases. J Med Genet 35:672-673
15. Farrer LA, Cupples LA, van Duijn CM, Kurz A, Zimmer R, Muller U, Green RC, et al (1995) Apolipoprotein E genotype in patients with Alzheimer's disease: implications for the risk of dementia among relatives. Ann Neurol 38:797-808
16. Fidani L, Rooke K, Chartier-Harlin MC, Hughes D, Tanzi R, Mullan M, Roques P, et al (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
17. Forsell C, Froelich S, Axelman K, Vestling M, Cowburn RF, Lilius L, Johnston JA, et al (1997) A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease. Neurosci Lett 234:3-6
18. Fox NC, Kennedy AM, Harvey RJ, Lantos PL, Roques PK, Collinge J, Hardy J (1997) Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene: pedigree but not mutation specific age at onset provides evidence for a further genetic factor. Brain 120:491-501
19. Gomez-Isla T, Wasco W, Pettingel WP, Gurubhagavatula S, Schmidt SD, Jondro PD, Mc Namara M, et al (1997) A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes. Ann Neurol 41:809-813
20. Harvey RJ, Ellison D, Hardy J, Hutton M, Roques PK, Collinge J, Fox NC, et al (1998) Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine→serine (L250S) substitution at codon 250 of the presenilin 1 gene. J Neurol Neurosurg Psychiatry 64:44-49
21. Hixson JE, Vernier DT (1990) Restriction isotyping of human APOE by gene amplification and cleavage with HhaI. J Lipid Res 31:545-548
22. Hutton M, Hardy J (1997) The presenilins and Alzheimer's disease. Hum Mol Genet 6:1639-1646
23. Kokmen E, Beard CM, Offord KP, Kurland LT (1989) Prevalence of medically diagnosed dementia in a defined United States population: Rochester, Minnesota, January 1, 1975. Neurology 39:773-776
24. Kwok JB, Taddei K, Hallupp M, Fisher C, Brooks WS, Broc GA, Hardy J, et al (1997) 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: 1537-1542
25. Lendon CL, Ashall F, Goate A (1997a) Exploring the etiology of Alzheimer's disease using molecular genetics. JAMA 277: 825-831
26. Lendon CL, Martinez A, Behrens IM, Kosik KS, Madrigal L, Norton J, Neuman R, et al (1997b) E280A PS-1 mutation causes Alzheimer's disease hut age onset is not modified by APOE alleles. Hum Mutat 10:186-195
27. Martinez M, Campion D, Brice A, Hannequin D, Dubois B, Didierjean O, Michon A, et al (1998) Apolipoprotein E e4 allele and familial aggregation of Alzheimer disease. Arch Neurol 55:810-816
28. Mattila KM, Forsell C, Pirttila T, Rinne JO, Lehtimaki T, Roytta M, Lilius L, et al (1998) The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease. Ann Neurol 44:965-967
29. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA work group under the auspices of Department of Health and Human Services Task Force on Alzheimer's disease. Neurology 34:939-944
30. Perez-Tur J, Campion D, Martinez M, Brice A, Tardieu S, Hannequin D, Agid Y, et al (1995a) Evidence for APOE E4 association in early-onset Alzheimer's disease patients with late onset relatives. Am J Med Genet 60:550-553
31. Perez-Tur J, Froelich S, Prihar G, Crook R, Baker M, Duff K, Wragg M, et al (1995b) A mutation In Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. Neuroreport 7:297-301
32. Poorkaj P, Sharma V, Anderson L, Nemens F, Alonso ME, Orr H, White J, et al (1998) Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. Hum Mutat 11:216-221
33. Rohan de Silva HA, Patel AJ (1997) Presenilins and early-onset familial Alzheirner's disease. Neuroreport 8:i-xii
34. Rossor MN, Fox NC, Beck J, Campbell TC, Collinge J (1996) Incomplete penetrance of familial Alzheirner's disease in a pedigree with a novel presenilin-1 gene mutation. Lancet 347:1560
35. Sandbrink R, Zhang D, Schaeffer S, Masters CL, Bauer J, Förstl H, Beyreuther K (1996) Missense mutations of the PS-1/S182 gene in German early-onset Alzheimer's disease patients. Ann Neurol 40:265-266
36. Schoenberg B, Anderson DW, Haerer AF (1985) Severe dementia, prevalence and clinical features in a biracial US population. Arch Neurol 42:740-743
37. Sherringron R, Froelich S, Sorbi S, Campion D, Chi H, Rogaeva FA, Levesque G, et al (1996) Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant. Hum Mol Genet 5:985-988
38. Sulkava R, Wikstrom J, Aromaa A, Raitasalo R, Lehtinen V, Lahtela K, Palo J (1985) Prevalence of severe dementia in Finland. Neurology 35:1025-1029
39. Tysoe C, Whittaker J, Xuereb J, Cairns NJ, Cruts M, Van Broeckhoven C, Wilcock G, et al (1998) A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease. Am J Hum Genet 62; 70-76
40. Van Duijn CM, De Knijff P, Crues M, Wehnert A, Havekes LM, Hofman A, Van Broeckhoven (1994) Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease. Nat Genet 7:74-78
41. Wisniewski T, Dowjat WK, Buxbaum JD, Khorkova O, Efthimiopoulos S, Kulczycki J, Lojkowska W, et al (1998) A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years. Neuroreport 9:217-221
42. Yasuda M, Maeda K, Ikejiri Y, Kawamata T, Kuroda S, Tanaka C ( 1997) A novel missense mutation in the presenilin-1 gene in a familial Alzheimer's disease pedigree with abundant amyloid angiopathy. Neurosci Lett 232:29-32