High prevalence of pathogenic mutations patients with early-onset dementia detected by sequence analyses of four different genes

American Journal of Human Genetics

Volumn 66, Issue 1, 2000, Pages 110-117

  Finckh, Ulrich ^a   Müller Thomsen, Tomas ^a   Mann, Ulrike ^a   Eggers, Christian ^a   Marksteiner, Josef ^c   Meins, Wolfgang ^b   Binetti, Giuliano ^d   Alberici, Antonella ^d   Hock, Christoph ^e,f   Nitsch, Roger M ^f   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b ALBERTINEN KRANKENHAUS   (Germany)

^c UNIVERSITY OF INNSBRUCK   (Austria)

^d IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

^e UNIVERSITY OF BASEL   (Switzerland)

^f UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; PRESENILIN 1; PRESENILIN 2;

ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DEMENTIA; DIFFERENTIAL DIAGNOSIS; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; MALE; ONSET AGE; POLYMERASE CHAIN REACTION; PREVALENCE; PRION DISEASE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0033909535     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302702     Document Type: Article

References (37)

1. Aldudo J, Bullido MJ, Frank A, Valdivieso F (1998) Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism. Ann Neurol 44:985-986
2. Barbanti P, Fabbrini G, Salvatore M, Petraroli R, Cardone F, Maras B, Equestre M, et al (1996) Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation). Neurology 47: 734-741
3. Bird TD, Levy-Lahad E, Poorkaj P, Sharma V, Nemens E, Lahad A, Lampe TH, et al (1996) Wide range in age of onset for chromosome 1-related familial Alzheimer's disease. Ann Neurol 40:932-936
4. 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
5. 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
6. El Hachimi KH, Cervenâkovâ L, Brown P, Goldfarb LG, Rubenstein R, Gajdusek DC, Foncin J-F (1996) Mixed features of Alzheimer disease and Creutzfeldt-Jakob disease in a family with a presenilin 1 mutation in chromosome 14. Amyloid Int J Exp Clin Invest 3:223-233
7. Finckh U, Kohlschütter A, Schäfer H, Sperhake K, Colombo JP, Gal A (1998) Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. Hum Mutat 12:206-211
8. Folstein MF, Folstein SE, McHugh PR (1975) "Mini-mental state:" a ptactical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 12:189-198
9. Fox NC, Kennedy AM, Harvey RJ, Lantos PL, Roques PK, Collinge J, Hardy J, et al (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
10. Geldmacher DS, Whitehouse PJ Jr (1997) Differential diagnosis of Alzheimer's disease. Neurology 48:S2-S9
11. Ghetti B, Piccardo P, Spillantini MG, Ichimiya Y, Porro M, Perini F, Kitamoto T, et al (1996) Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP. Proc Natl Acad Sci USA 93:744-748
12. Goate A, Chartier-Harlin M-C, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, et al (1991) Segregation of a missense mutation in the amyloid protein precursor gene with familial Alzheimer's disease. Nature 349:704-709
13. Goldfarb LG, Petersen RB, Tabaton M, Brown P, LeBlanc AC, Montagna P, Cortelli P, et al (1992) Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 258:806-808
14. Hainfellner JA, Brantner-Inthaler S, Cervenakova L, Brown P, Kitamoto T, Tateishi J, Diringer H, et al (1995) The original Gerstmann-Straussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype. Brain Pathol 5:201-211
15. Hainfellner JA, Wanschitz J, Jellinger K, Liberski PP, Gullotta F, Budka H (1998) Coexistence of Alzheimer-type neuropathology in Creutzfeldt-Jakob disease. Acta Neuropathol (Berl) 96:116-122
16. Haltia M, Viitanen M, Sulkava R, Ala-Hurula V, Poyhonen M, Goldfarb L, Brown P, et al (1994) Chromosome 14-encoded Alzheimer's disease: genetic and clinicopathological description. Ann Neurol 36:362-367
17. Hamasaki S, Shirabe S, Tsuda R, Yoshimura T, Nakamura T, Eguchi K (1998) Discordant Gerstmann-Straussler-Scheinker disease in monozygotic twins. Lancet 352:1358-1359
18. Hardy J, Gwinn-Hardy K (1998) Genetic classification of primary neurodegenerative disease. Science 282:1075-1079
19. Hsiao K, Baker HF, Crow TJ, Poulter M, Owen F, Terwilliger JD, Westaway D, et al (1989) Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome. Nature 338:342-345
20. Hull M, Fiebich BL, Dykierek P, Schmidtke K, Nitzsche E, Orszagh M, Deuschl G, et al (1998) Early-onset Alzheimer's disease due to mutations of the presenilin-1 gene on chromosome 14: a 7-year follow-up of a patient with a mutation at codon 139. Eur Arch Psychiatry Clin Neurosci 248:123-129
21. 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
22. Kitamoto T, Iizuka R, Tateishi J (1993) An amber mutation of prion protein in Gerstmann-Straussler syndrome with mutant PrP plaques. Biochem Biophys Res Commun 192:525-531
23. Kretzschmar HA, Stowring LE, Westaway D, Stubblebine WH, Prusiner SB, Dearmond SJ (1986) Molecular cloning of a human prion protein cDNA. DNA 5:315-324
24. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu C, et al (1995) Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269:973-977
25. 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
26. Mayeux R, Stern Y, Spanton S (1985) Heterogeneity in dementia of the Alzheimer type: evidence of subgroups. Neurology 35:453-461
27. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA group under the auspices of Department of HHS task force on Alzheimer's disease. Neurology 34:939-944
28. Mirra SS, Heyman A, McKeel D, Sumi SM, Grain BJ, Brownlee LM, Vogel FS, et al (1991) The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Neurology 41: 479-486
29. Nishimura M, Yu G, Levesque G, Zhang DM, Ruel L, Chen F, Milman P, et al (1999) Presenilin mutations associated with Alzheimer disease cause defective intracellular traffick-ing of beta-catenin, a component of the presenilin protein complex. Nat Med 5:164-169
30. Nitrini R, Rosemberg S, Passos-Bueno MR, da Suva LS, Iughetti P, Papadopoulos M, Carrilho PM, et al (1997) Familial spongiform encephalopathy associated with a novel prion protein gene mutation. Ann Neurol 42:138-146
31. Owen F, Poulter M, Lofthouse R, Collinge J, Crow TJ, Risby D, Baker HF, et al (1989) Insertion in prion protein gene in familial Creutzfeldt-Jakob disease. Lancet 1:51-52
32. Palmer MS, Mahal SP, Campbell TA, Hill AF, Sidle KC, Laplanche JL, Collinge J (1993) Deletions in the prion protein gene are not associated with CJD. Hum Mol Genet 2: 541-544
33. Perry RT, Go RC, Harrell LE, Acton RT (1995) SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family. Am J Med Genet 60:12-18
34. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang, Y, Chi H, et al (1995) 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 376:775-778
35. Sherrington R, Froelich S, Sorbi S, Campion D, Chi H, Rogaeva EA, 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
36. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, et al (1995) Cloning a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375:754-760
37. Young K, Clark HB, Piccardo P, Dlouhy SR, Ghetti B (1997) Gerstmann-Straussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129. Brain Res Mol Brain Res 44:147-150