Alzheimer's disease: Genetic evidence points to a single pathogenesis

Annals of Neurology

Volumn 54, Issue 2, 2003, Pages 143-144

  Hardy, John ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E; PRESENILIN 1; PRESENILIN 2; TAU PROTEIN;

ALLELE; ALZHEIMER DISEASE; AMYLOIDOSIS; APP GENE; CIS ISOMER; EDITORIAL; GENE ISOLATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; ONSET AGE; PARAPLEGIA; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN PROCESSING; PS1 GENE; PS2 GENE; RISK FACTOR; TRANS ISOMER; TRISOMY 21; WILD TYPE;

ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN PRECURSOR; HUMANS; MEMBRANE PROTEINS; PRESENILIN-1; PRESENILIN-2;

EID: 0042845877     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10624     Document Type: Editorial

References (23)

1. Goate AM, Chartier-Harlin MC, Mullan MC, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991;349:704-706.
2. Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995;375:754-760.
3. Levy-Lahad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995;269:973-977.
4. Rogaev EI, Sherrington R, Rogaeva EA, 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;376:775-778.
5. Scheuner D, Eckman C, Jensen M, et al. Secreted amyloid β-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. Nat Med 1996;2:864-870.
6. Hardy J, Selkoe DJ. The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science 2002;297:353-356.
7. Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993;261:921-923.
8. Houlden H, Collinge J, Kennedy A, et al. ApoE genotype and Alzheimer's disease. Lancet 1993;342:737-738.
9. Royston MC, Mann D, Pickering-Brown S, et al. Apolipoprotein E ε2 allele promotes longevity and protects patients with Down's syndrome from dementia. Neuroreport 1994;5:2583-2585.
10. Van Broeckhoven C, Backhovens H, Cruts M, et al. ApoE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease. Neurosci Lett 1994;169:179-180.
11. Mehta NM, Refolo LM, Eckman C, et al. Increased AD in cell lines expressing presenilin 1 mutations. Ann Neurol 1998;43:256-260.
12. Citron M, Westaway D, Xia W, et al. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice. Nat Med 1997;3:67-72.
13. Crook R, Verkkoniemi A, Pérez-Tur J, et al. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat Med 1998;4:452-455.
14. Houlden H, Baker M, McGowan E, et al. Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations. Ann Neurol 2000;48:806-808.
15. Lopera F, Ardilla A, Martinez A, et al. Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. JAMA 1997;277:793-799.
16. Pastor P, Roe CM, Villegas A, et al. APOE ε4 modifies age of onset in a large E280A presenilin 1 Alzheimer's disease kindred. Ann Neurol 2003;54:163-169.
17. Lendon CL, Martinez A, Behrens IM, et al. E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles. Hum Mutat 1997;10:186-195.
18. Wolfe MS, Xia W, Ostaszewski BL, et al. Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity. Nature 1999;398:513-517.
19. Takasugi N, Tomita T, Hayashi I, et al. The role of presenilin cofactors in the gamma-secretase complex. Nature 2003;422:438-441.
20. Edbauer D, Winkler E, Regula JT, et al. Reconstitution of gamma-secretase activity. Nat Cell Biol 2003;5:486-488.
21. Theuns J, Remacle J, Killick R, et al. Alzheimer-associated C allele of the promoter polymorphism -22CT causes a critical neuron-specific decrease of presenilin 1 expression. Hum Mol Genet 2003;12:869-877.
22. Smith MJ, Kwok JB, McLean CA, et al. Variable phenotype of Alzheimer's disease with spastic paraparesis. Ann Neurol 2001;49:125-129.
23. Lewis J, Dickson DW, Lin WL, et al. Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP. Science 2001;293:1487-1491.