The impact of different presenilin 1 and presenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain. Evidence for other phenotype-modifying factors

Brain

Volumn 122, Issue 9, 1999, Pages 1709-1719

  Gómez Isla, Teresa ^d   Growdon, Whitfield B ^e   McNamara, Megan J ^e   Nochlin, David ^a   Bird, Thomas D ^a   Arango, Juan Carlos ^b   Lopera, Francisco ^b   Kosik, Kenneth S ^e   Lantos, Peter L ^c   Cairns, Nigel J ^c   Hyman, Bradley T ^e  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF MINNESOTA   (United States)

^e Department of Neurology University of Minnesota Box 295 FUMC ^*

Author keywords

A plaques; Familial Alzheimer's disease; Neurofibrillary tangles; Neuronal loss; Presenilin

Indexed keywords

AMYLOID; AMYLOID BETA PROTEIN; PRESENILIN 1; PRESENILIN 2;

ADULT; AGED; ALZHEIMER DISEASE; AMYLOIDOSIS; ARTICLE; ASSOCIATION CORTEX; CELL LOSS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; FAMILIAL DISEASE; GENE MUTATION; HUMAN; HUMAN TISSUE; NERVE CELL; NEUROFIBRILLARY TANGLE; NEUROPATHOLOGY; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SENILE PLAQUE;

EID: 2542509819     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/122.9.1709     Document Type: Article

References (42)

1. Bird TD, Sumi SM, Nemens EJ, Nochlin D, Schellenberg G, Lampe TH, et al. Phenotypic heterogeneity in familial Alzheimer's disease: a study of 24 kindreds. Ann Neurol 1989; 25: 12-25.
2. Chartier-Harlin M, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, et al. Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene. Nature 1991; 353: 844-6.
3. Fox NC, Kennedy AM, Harvey RJ, Lantos PL, Roques PK, Collinge J, et al. 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 1997; 120: 491-501.
4. Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease [see comments]. Nature 1991; 349: 704-9. Comment in: Nature 1991; 349: 633-4, Comment in: Nature 1991; 350: 564.
5. Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease [see comments]. Nature 1991; 349: 704-9. Comment in: Nature 1991; 349: 633-4, Comment in: Nature 1991; 350: 564.
6. Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease [see comments]. Nature 1991; 349: 704-9. Comment in: Nature 1991; 349: 633-4, Comment in: Nature 1991; 350: 564.
7. Gömez-Isla T, Hollister R, West H, Mui S, Growdon JH, Petersen RC, et al. Neuronal loss correlates with but exceeds neurofibrillary tangles in Alzheimer's disease. Ann Neurol 1997a; 41: 17-24.
8. Gomez-Isla T, Wasco W, Pettingell WP, Gurubhagavatula S, Schmidt SD, Jondro PD. et al. A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes. Ann Neurol 1997b; 41: 809-13.
9. Guo Q, Sopher BL, Furukawa K, Pham DG, Robinson N, Martin GM, et al. Alzheimer's presenilin mutation sensitizes neural cells to apoptosis induced by trophic factor withdrawal and amyloid beta-peptide: involvement of calcium and oxyradicals. J Neurosci 1997; 17: 4212-22.
10. Hardy J. Amyloid, the presenilins and Alzheimer's disease [see comments]. [Review]. Trends Neurosci 1997; 20: 154-9. Comment in: Trends Neurosci 1997; 20: 558-9.
11. Hardy J. Amyloid, the presenilins and Alzheimer's disease [see comments]. [Review]. Trends Neurosci 1997; 20: 154-9. Comment in: Trends Neurosci 1997; 20: 558-9.
12. Hendriks L, van Duijn CM, Cras P, Cruts M, Van Hul W, van Harskamp F, et al. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β-amyloid precursor protein gene. Nat Genet 1992; 1: 218-21.
13. Ishii K, Ii K, Hasegawa T, Shoji S, Doi A, Mori H. Increased Aβ 42(43)-plaque deposition in early-onset familial Alzheimer's disease brains with the deletion of exon 9 and the missense point mutation (H163R) in the PS-1 gene. Neurosci Lett 1997; 228: 17-20.
14. Iwatsubo T, Odaka A, Suzuki N, Mizusawa H, Nukina N, Ihara Y. Visualization of Aβ42(43) and Aβ40 in senile plaques with end-specific Aβ monoclonals: evidence that an initially deposited species is Aβ 42(43). Neuron 1994; 13: 43-53.
15. Jarrett JT, Berger EP, Lansbury PT Jr. The carboxy terminus of the beta amyloid protein is critical for the seeding of amyloid formation: implications for the pathogenesis of Alzheimer's disease. Biochemistry 1993; 32: 4693-7.
16. Khachaturian ZS. Diagnosis of Alzheimer's disease. Arch Neurol 1985; 42: 1097-105.
17. Lemere CA, Lopera F, Kosik KS, Lendon CL, Ossa J, Saido TC, et al. The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology. Nat Med 1996; 2: 1146-50.
18. Levy E, Carman MD, Fernandez-Madrid IJ, Power MD, Lieberburg I, van Duinen SG, et al. Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science 1990; 248: 1124-6.
19. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus [see comments]. Science 1995; 269: 973-7. Comment in: Science 1995; 269: 917-8.
20. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus [see comments]. Science 1995; 269: 973-7. Comment in: Science 1995; 269: 917-8.
21. Lopera F, Ardilla A, Martinez A, Madrigal L, Arango-Viana JC, Lemere CA, et al. Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. JAMA 1997; 277: 793-9.
22. Mann DM, Iwatsubo T, Cairns NJ, Lantos PL, Nochlin D, Sumi SM, et al. Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43). Ann Neurol 1996; 40: 149-56.
23. Mann DM, Iwatsubo T, Nochlin D, Sumi SM, Levy-Lahad E, Bird TD. Amyloid (Abeta) deposition in chromosome 1-linked Alzheimer's disease: the Volga German families. Ann Neurol 1997; 41:52-7.
24. McNamara MJ, Gomez-Isla T, Hyman BT. Apolipoprotein E genotype and deposits of Aβ 40/42 and Aβ42 in Alzheimer's disease. Arch Neurol 1998; 55: 1001-A
25. Mirra SS, Heyman A, McKeel D, Sumi SM, Crain BJ, Brownlee LM, et al. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology 1991; 41: 479-86.
26. Mullan M, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B, et al. A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of β-amyloid. Nat Genet 1992; 1: 345-7.
27. Murrell J, Farlow M, Ghetti B, Benson MD. A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science 1991; 254: 97-9.
28. Nochlin D, Bird TD, Nemens EJ, Ball MJ, Sumi SM. Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I). Ann Neurol 1998; 43: 131-5.
29. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, et al. 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 1995; 376: 775-8.
30. Rossor MN, Fox NC, Beck J, Campbell TC, Collinge J. Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation [letter]. Lancet 1996; 347: 1560.
31. Scheuner D, Eckman C, Jensen M, Song X, Citron M, Suzuki N, et al. Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease [see comments]. Nat Med 1996; 2: 864-70. Comment in: Nat Med 1996; 2: 850-2.
32. Scheuner D, Eckman C, Jensen M, Song X, Citron M, Suzuki N, et al. Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease [see comments]. Nat Med 1996; 2: 864-70. Comment in: Nat Med 1996; 2: 850-2.
33. Shen J, Bronson RT, Chen DF, Xia W, Selkoe DJ, Tonegawa S. Skeletal and CNS defects in presenilin-1-deficient mice. Cell 1997; 89: 629-39.
34. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease [see comments]. Nature 1995; 375: 754-60. Comment in: Nature 1995; 375: 734.
35. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease [see comments]. Nature 1995; 375: 754-60. Comment in: Nature 1995; 375: 734.
36. Tamaoka A, Odaka A, Ishibashi Y, Usami M, Sahara N, Suzuki N, et al. APP717 mis-sense mutation affects the ratio of amyloid β protein species (A(1-42/43 and Aβ1-40) in familial Alzheimer's disease brain. J Biol Chem 1994; 269: 32721-4.
37. Tanzi RE, Vaula G, Romano DM, Mortilla M, Huang TL. Tupler RG, et al. Assessment of amyloid β protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. Am J Hum Genet 1992; 51: 273-82.
38. Tomita T, Maruyama K, Saido TC, Kume H, Shinozaki K, Tokuhiro S, et al. The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue [see comments], Proc Natl Acad Sci USA 1997; 94: 2025-30. Comment in: Proc Natl Acad Sci USA 1997; 94: 2095-7.
39. Tomita T, Maruyama K, Saido TC, Kume H, Shinozaki K, Tokuhiro S, et al. The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue [see comments], Proc Natl Acad Sci USA 1997; 94: 2025-30. Comment in: Proc Natl Acad Sci USA 1997; 94: 2095-7.
40. Wolozin B, Iwasaki K, Vito P, Ganjei JK, Lacana E, Sunderland T, et al. Participation of presenilin 2 in apoptosis: enhanced basal activity conferred by an Alzheimer mutation. Science 1996; 274: 1710-3.
41. Younkin SG. Evidence that A beta 42 is the real culprit in Alzheimer's disease [editorial; comment]. Ann Neurol 1995; 37: 287-8. Comment on: Ann Neurol; 37: 294-9.
42. Younkin SG. Evidence that A beta 42 is the real culprit in Alzheimer's disease [editorial; comment]. Ann Neurol 1995; 37: 287-8. Comment on: Ann Neurol; 37: 294-9.