The usefulness of biological and neuroimaging markers for the diagnosis of early-onset Alzheimer's disease

International Journal of Alzheimer's Disease

Volumn , Issue , 2011, Pages

  Padovani, Alessandro ^a   Gilberti, Nicola ^a   Borroni, Barbara ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; PRESENILIN 1; PRESENILIN 2;

ALZHEIMER DISEASE; AMNESIA; AUTOSOMAL DOMINANT INHERITANCE; BRAIN ATROPHY; CEREBROSPINAL FLUID; DEMENTIA; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DNA SEQUENCE; GENE MUTATION; GENETIC VARIABILITY; HIPPOCAMPUS; HUMAN; LEWY BODY; NEOCORTEX; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; PARKINSON DISEASE; PHENOTYPE; POSTERIOR CINGULATE; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION;

EID: 79955388269     PISSN: None     EISSN: 20900252     Source Type: Journal    
DOI: 10.4061/2011/296374     Document Type: Review

References (56)

1. McKhann G., Drachman D., Folstein M., 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 1984 34 7 939 944 (Pubitemid 14076461)
2. Braak H., Braak E., Demonstration of amyloid deposits and neurofibrillary changes in whole brain sections Brain Pathology 1991 1 3 213 216
3. Galton C. J., Patterson K., Xuereb J. H., Hodges J. R., Atypical and typical presentations of Alzheimer's disease: a clinical, neuropsychological, neuroimaging and pathological study of 13 cases Brain 2000 123 3 484 498 (Pubitemid 30099534)
4. Alladi S., Xuereb J., Bak T., Nestor P., Knibb J., Patterson K., Hodges J. R., Focal cortical presentations of Alzheimer's disease Brain 2007 130 10 2636 2645 (Pubitemid 47511719)
5. Benson D. F., The spectrum of dementia: a comparison of the clinical features of AIDS/dementia and dementia of the Alzheimer type Alzheimer Disease and Associated Disorders 1987 1 4 217 220
6. Knibb J. A., Xuereb J. H., Patterson K., Hodges J. R., Clinical and pathological characterization of progressive aphasia Annals of Neurology 2006 59 1 156 165 (Pubitemid 43042882)
7. Johnson J. K., Head E., Kim R., Starr A., Cotman C. W., Clinical and pathological evidence for a frontal variant of Alzheimer disease Archives of Neurology 1999 56 10 1233 1239 (Pubitemid 29473215)
8. Dubois B., Feldman H. H., Jacova C., DeKosky S. T., Barberger-Gateau P., Cummings J., Delacourte A., Galasko D., Gauthier S., Jicha G., Meguro K., O'Brien J., Pasquier F., Robert P., Rossor M., Salloway S., Stern Y., Visser P. J., Scheltens P., Research criteria for the diagnosis of Alzheimer's disease: revising the NINCDS-ADRDA criteria Lancet Neurology 2007 6 8 734 746 (Pubitemid 47058377)
9. Goate A., Chartier-Harlin M. C., Mullan M., Brown J., Crawford F., Fidani L., Giuffra L., Haynes A., Irving N., James L., Mant R., Newton P., Rooke K., Roques P., Talbot C., Pericak-Vance M., Roses A., Williamson R., Hardy J., Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease Nature 1991 349 6311 704 706 (Pubitemid 21912142)
10. Steiner H., Haass C., Nuclear signaling: a common function of presenilin substrates? Journal of Molecular Neuroscience 2001 17 2 193 198 (Pubitemid 33063523)
11. Hardy J., Amyloid, the presenilins and Alzheimer's disease Trends in Neurosciences 1997 20 4 154 159 (Pubitemid 27116286)
12. Hardy J. A., Higgins G. A., Alzheimer's disease: the amyloid cascade hypothesis Science 1992 256 5054 184 185
13. Mullan M., Crawford F., Axelman K., Houlden H., Lilius L., Winblad B., Lannfelt L., A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of -amyloid Nature Genetics 1992 1 5 345 347
14. Cabrejo L., Guyant-Marchal L., Laquerrire A., Vercelletto M., De La Fournire F., Thomas-Antrion C., Verny C., Letournel F., Pasquier F., Vital A., Checler F., Frebourg T., Campion D., Hannequin D., Phenotype associated with APP duplication in five families Brain 2006 129 11 2966 2976 (Pubitemid 44684517)
15. Pasalar P., Najmabadi H., Noorian A. R., Moghimi B., Jannati A., Soltanzadeh A., Krefft T., Crook R., Hardy J., An Iranian family with Alzheimer's disease caused by a novel APP mutation (THr714ALa) Neurology 2002 58 10 1574 1575 (Pubitemid 34552978)
16. Guyant-Marechal I., Berger E., Laquerrire A., Rovelet-Lecrux A., Viennet G., Frebourg T., Rumbach L., Campion D., Hannequin D., Intrafamilial diversity of phenotype associated with app duplication Neurology 2008 71 23 1925 1926
17. Cruts M., Van Broeckhoven C., Presenilin mutations in Alzheimer's disease Human Mutation 1998 11 3 183 190 (Pubitemid 28132873)
18. Sherrington R., Rogaev E. I., Liang Y., Rogaeva E. A., Levesque G., Ikeda M., Chi H., Lin C., Holman K., Tsuda T., Mar L., Foncin J. F., Bruni A. C., Montesi M. P., Sorbi S., Rainero I., Pinessi L., Nee L., Chumakov I., St George-Hyslop P. H., Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease Nature 1995 375 6534 754 760
19. Tandon A., Rogaeva E., Mullan M., George P. H., Molecular genetics of Alzheimer's disease: the role of -amyloid and the presenilins Current Opinion in Neurology 2000 13 4 377 384
20. Dowjat W. K., Kuchna I., Wisniewski T., Wegiel J., A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations Journal of Alzheimer's Disease 2004 6 1 31 43 (Pubitemid 38418556)
21. Devi G., Fotiou A., Jyrinji D., Tycko B., DeArmand S., Rogaeva E., Song Y. Q., Medieros H., Liang Y., Orlacchio A., Williamson J., George -. P. ST., Mayeux R., Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease Archives of Neurology 2000 57 10 1454 1457
22. Jayadev S., Leverenz J. B., Steinbart E., Stahl J., Klunk W., Yu C. E., Bird T. D., Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2 Brain 2010 133 4 1143 1154
23. Mann D. M.A., Pickering-Brown S. M., Takeuchi A., Iwatsubo T., Arango J., Bird T., Van Broeckhoven C., Brooks W., Brown R., Cairns N., Cras P., Ellison D., Haltia M., Ii K., Jorgensen A., Krill J., Lantos P., Lippa C., Martins R., Nochlin D., Pollen D., Rosenberg C., Rossor M., Tabira T., Amyloid angiopathy and variability in amyloid deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease American Journal of Pathology 2001 158 6 2165 2175 (Pubitemid 32545202)
24. Furuya H., Yasuda M., Terasawa K. J., Tanaka K., Murai H., Kira J. I., Ohyagi Y., A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion Journal of the Neurological Sciences 2003 209 1-2 75 77 (Pubitemid 36398681)
25. Lampe T. H., Bird T. D., Nochlin D., Nemens E., Risse S. C., Sumi S. M., Koerker R., Leaird B., Wier M., Raskind M. A., Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred Annals of Neurology 1994 36 3 368 378 (Pubitemid 24280058)
26. Harvey R. J., Ellison D., Hardy J., Hutton M., Roques P. K., Collinge J., Fox N. C., Rossor M. N., 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 Journal of Neurology Neurosurgery and Psychiatry 1998 64 1 44 49 (Pubitemid 28156536)
27. Finckh U., Mller-Thomsen T., Mann U., Eggers C., Marksteiner J., Meins W., Binetti G., Alberici A., Hock C., Nitsch R. M., Gal A., High prevalence of pathogenic mutations patients with early-onset dementia detected by sequence analyses of four different genes American Journal of Human Genetics 2000 66 1 110 117 (Pubitemid 30481473)
28. Dermaut B., Kumar-Singh S., De Jonghe C., Cruts M., Lfgren A., Lbke U., Cras P., Dom R., De Deyn P. P., Martin J. J., Van Broeckhoven C., Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation Brain 2001 124 12 2383 2392 (Pubitemid 33134928)
29. Hattori S., Sakuma K., Wakutani Y., Wada K., Shimoda M., Urakami K., Kowa H., Nakashima K., A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis Neuroscience Letters 2004 368 3 319 322 (Pubitemid 39214976)
30. Levy-Lahad E., Wasco W., Poorkaj P., Romano D. M., Oshima J., Pettingell W. H., Yu C. E., Jondro P. D., Schmidt S. D., Wang K., Crowley A. C., Fu Y. H., Guenette S. Y., Galas D., Nemens E., Wijsman E. M., Bird T. D., Schellenberg G. D., Tanzi R. E., Candidate gene for the chromosome 1 familial Alzheimer's disease locus Science 1995 269 5226 973 977
31. Rogaev E. I., Sherrington R., Rogaeva E. A., Levesque G., Ikeda M., Llang Y., Chi H., Lin C., Holman K., Tsuda T., Mar L., Sorbi S., Nacmias B., Piacentini S., Amaduccl L., Chumakov I., Cohen D., Lannfelt L., St George-Hyslop P. H., 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 6543 775 778
32. Finckh U., Kuschel C., Anagnostouli M., Patsouris E., Pantes G. V., Gatzonis S., Kapaki E., Davaki P., Lamszus K., Stavrou D., Gal A., Novel mutations and repeated findings of mutations in familial Alzheimer disease Neurogenetics 2005 6 2 85 89 (Pubitemid 40768119)
33. Walker E. S., Martinez M., Brunkan A. L., Goate A., Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in A 42/40 ratios Journal of Neurochemistry 2005 92 2 294 301 (Pubitemid 40194020)
34. Nussbaum R. L., Ellis C. E., Alzheimer's disease and Parkinson's disease New England Journal of Medicine 2003 348 14 1356 1364 (Pubitemid 36384104)
35. Ertekin-Taner N., Genetics of Alzheimer's disease: a centennial review Neurologic Clinics 2007 25 3 611 667 (Pubitemid 47058875)
36. Lemere C. A., Lopera F., Kosik K. S., Lendon C. L., Ossa J., Saido T. C., Yamaguchi H., Ruiz A., Martinez A., Madrigal L., Hincapie L., Arango J. C., Anthony D. C., Koo E. H., Goate A. M., Selkoe D. J., Arango J. C., The E280A presenilin 1 Alzheimer mutation produces increased A 42 deposition and severe cerebellar pathology Nature Medicine 1996 2 10 1146 1150 (Pubitemid 26338637)
37. Iwatsubo T., A 42, presenilins, and Alzheimer's disease Neurobiology of Aging 1998 19 1 S11 S13
38. Boutajangout A., Leroy K., Touchet N., Authelet M., Blanchard V., Tremp G., Pradier L., Brion J. P., Increased tau phosphorylation but absence of formation of neurofibrillary tangles in mice double transgenic for human tau and Alzheimer mutant (M146L) presenilin-1 Neuroscience Letters 2002 318 1 29 33 (Pubitemid 34084958)
39. De Bot S. T., Kremer H. P. H., Dooijes D., Verbeek M. M., CSF studies facilitate DNA diagnosis in familial alzheimer's disease due to a presenilin-1 mutation Journal of Alzheimer's Disease 2009 17 1 53 57
40. Uttner I., Kirchheiner J., Tumani H., Mottaghy F. M., Lebedeva E., zer E., Ludolph A. C., Huber R., Von Arnim C. A. F., A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF European Journal of Neurology 2010 17 4 631 633
41. Alberici A., Bonato C., Borroni B., Cotelli M., Mattioli F., Binetti G., Gennarelli M., Luca M. D., Simonati A., Perani D., Rossini P., Padovani A., Dementia, delusions and seizures: storage disease or genetic AD? European Journal of Neurology 2007 14 9 1057 1059 (Pubitemid 47300760)
42. Frisoni G. B., Pievani M., Testa C., Sabattoli F., Bresciani L., Bonetti M., Beltramello A., Hayashi K. M., Toga A. W., Thompson P. M., The topography of grey matter involvement in early and late onset Alzheimer's disease Brain 2007 130 3 720 730 (Pubitemid 46410740)
43. Schll M., Almkvist O., Axelman K., Stefanova E., Wall A., Westman E., Lngstrm B., Lannfelt L., Graff C., Nordberg A., Glucose metabolism and PIB binding in carriers of a His163Tyr presenilin 1 mutation. Neurobiology of Aging. In press
44. Rossor M. N., Newman S., Frackowiak R. S., Alzheimer's disease families with amyloid precursor protein mutations Annals of the New York Academy of Sciences 1993 695 23 198 202 (Pubitemid 23348261)
45. Klunk W. E., Price J. C., Mathis C. A., Tsopelas N. D., Lopresti B. J., Ziolko S. K., Bi W., Hoge J. A., Cohen A. D., Ikonomovic M. D., Saxton J. A., Snitz B. E., Pollen D. A., Moonis M., Lippa C. F., Swearer J. M., Johnson K. A., Rentz D. M., Fischman A. J., Aizenstein H. J., DeKosky S. T., Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees Journal of Neuroscience 2007 27 23 6174 6184 (Pubitemid 46890033)
46. Villemagne V. L., Ataka S., Mizuno T., Brooks W. S., Wada Y., Kondo M., Jones G., Watanabe Y., Mulligan R., Nakagawa M., Miki T., Shimada H., O'Keefe G. J., Masters C. L., Mori H., Rowe C. C., High striatal amyloid -peptide deposition across different autosomal Alzheimer disease mutation types Archives of Neurology 2009 66 12 1537 1544
47. Braak H., Braak E., Bohl J., Staging of Alzheimer-related cortical destruction European Neurology 1993 33 6 403 408 (Pubitemid 23358066)
48. Jack C. R., Petersen R. C., O'Brien P. C., Tangalos E. G., MR-based hippocampal volumetry in the diagnosis of Alzheimer's disease Neurology 1992 42 1 183 188
49. Laakso M. P., Soininen H., Partanen K., Helkala E. L., Hartikainen P., Vainio P., Hallikainen M., Hanninen T., Riekkinen P. J., Volumes of hippocampus, amygdala and frontal lobes in the MRI-based diagnosis of early Alzheimer's disease: correlation with memory functions Journal of Neural Transmission. Parkinson's Disease and Dementia Section 1995 9 1 73 86
50. Teipel S. J., Meindl T., Grinberg L., Heinsen H., Hampel H., Novel MRI techniques in the assessment of dementia European Journal of Nuclear Medicine and Molecular Imaging 2008 35 supplement 1 S58 S69
51. Golan M. P., Styczyska M., Jwiak K., Walecki J., Maruszak A., Pniewski J., ugiewicz R., Filipek S., Zekanowski C., Barcikowska M., Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene Experimental Neurology 2007 208 2 264 268 (Pubitemid 350101504)
52. Fox N. C., Warrington E. K., Stevens J. M., Rossor M. N., Atrophy of the hippocampal formation in early familial Alzheimer's disease: a longitudinal MRI study of at-risk members of a family with an amyloid precursor protein 717 mutation Annals of the New York Academy of Sciences 1996 777 226 232
53. Moonis M., Swearer J. M., Dayaw M. P. E., George P. S., Rogaeva E., Kawarai T., Pollen D. A., Familial Alzheimer disease: decreases in CSF A levels precede cognitive decline Neurology 2005 65 2 323 325 (Pubitemid 41022387)
54. Mosconi L., Sorbi S., De Leon M. J., Li YI., Nacmias B., Myoung P. S., Tsui W., Ginestroni A., Bessi V., Fayyazz M., Caffarra P., Pupi A., Hypometabolism exceeds atrophy in presymptomatic early-onset familial Alzheimer's disease Journal of Nuclear Medicine 2006 47 11 1778 1786 (Pubitemid 47553729)
55. Johnson K. A., Lopera F., Jones K., Becker A., Sperling R., Hilson J., Londono J., Siegert I., Arcos M., Moreno S., Madrigal L., Ossa J., Pineda N., Ardila A., Roselli M., Albert M. S., Kosik K. S., Rios A., Presenilin- 1associated abnormalities in regional cerebral perfusion Neurology 2001 56 11 1545 1551 (Pubitemid 32532268)
56. Knight W. D., Okello A. A., Ryan N. S., Turkheimer F. E., Rodrguez Martinez De Llano S., Edison P., Douglas J., Fox N. C., Brooks D. J., Rossor M. N., Carbon-11-Pittsburgh compound B positron emission tomography imaging of amyloid deposition in presenilin 1 mutation carriers Brain 2011 134 1 293 300