Variability and heterogeneity in Alzheimer's disease with cotton wool plaques: A clinicopathological study of four autopsy cases

Acta Neuropathologica

Volumn 106, Issue 4, 2003, Pages 348-356

  Yokota, Osamu ^a   Terada, Seishi ^a   Ishizu, Hideki ^a,b   Ujike, Hiroshi ^a   Ishihara, Takeshi ^a   Namba, Masuyuki ^b   Hayashi, Yasuaki ^c   Nishinaka, Tetsuya ^d   Namba, Reiko ^e   Nakashima, Hanae ^a   Uéda, Kenji ^f   Checler, Frédéric ^g   Kuroda, Shigetoshi ^a  

^a OKAYAMA UNIVERSITY   (Japan)

^b Zikei Institute of Psychiatry   (Japan)

^c NATIONAL HOSPITAL ORGANIZATION OKAYAMA MEDICAL CENTER   (Japan)

^d OKAYAMA UNIVERSITY HOSPITAL   (Japan)

^e National Hospital Organization   (Japan)

^f TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^g INSTITUT DE PHARMACOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

Synuclein; A ; Alzheimer's disease; Cotton wool plaque; Tau

Indexed keywords

ALPHA SYNUCLEIN; AMYLOID BETA PROTEIN; DNA; PRESENILIN 1; TAU PROTEIN;

ADULT; AGED; AGGRESSION; ALZHEIMER DISEASE; ARGYROPHILIA; ARTICLE; ASTROCYTE; AUTOPSY; AUTOSOMAL DOMINANT INHERITANCE; BRAIN CORTEX; CASE REPORT; CLINICAL FEATURE; COMORBIDITY; CONTROLLED STUDY; DEGENERATIVE DISEASE; DEMENTIA; EOSINOPHIL; FAMILY HISTORY; FEMALE; FRONTAL LOBE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMPULSIVENESS; LEWY BODY; MALE; NEURITIS; NEUROFIBRILLARY TANGLE; NEUROPATHOLOGY; ONSET AGE; PERSONALITY DISORDER; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SPASTIC PARAPLEGIA; TAUOPATHY; TEMPORAL LOBE;

ADULT; AGE OF ONSET; AGED; ALPHA-SYNUCLEIN; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; AUTOPSY; BRAIN; CASE-CONTROL STUDIES; FEMALE; GLIAL FIBRILLARY ACIDIC PROTEIN; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; NERVE TISSUE PROTEINS; NEUROFIBRILLARY TANGLES; NEUROLOGIC EXAMINATION; PRIONS; STAINING AND LABELING; SYNUCLEINS; TAU PROTEINS;

EID: 0142125743     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-003-0737-7     Document Type: Article

References (37)

1. Arima K, Ueda K, Sunohara N, Hirai S, Izumiyama Y, Tonozuka-Uehara H, Kawai M (1998) Immunoelectron-microscopic demonstration of NACP/alpha-synuclein-epitopes on the filamentous component of Lewy bodies in Parkinson's disease and in dementia with Lewy bodies. Brain Res 808:93-100
2. Barelli H, Lebeau A, Vizzavona J, Delaere P, Chevallier N, Drouot C, Marambaud P, Ancolio K, Buxbaum JD, Khorkova O, Heroux J, Sahasrabudhe S, Martinez J, Warter JM, Mohr M, Checler F (1997) Characterization of new polyclonal antibodies specific for 40 and 42 amino acid-long amyloid beta peptides: their use to examine the cell biology of presenilins and the immunohistochemistry of sporadic Alzheimer's disease and cerebral amyloid angiopathy cases. Mol Med 10:695-707
3. Braak H, Braak E (1991) Neuropathological staging of Alzheimer-related changes. Acta Neuropathol 82:239-259
4. Brooks WS, Kwok JB, Kril JJ, Broe GA, Blumbergs PC, Tannenberg AE, Lamont PJ, Hedges P, Schofield PR (2003) Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions. Brain 126: 783-791
5. Chui DH, Dobo E, Makifuchi T, Akiyama H, Kawakatsu S, Petit A, Checler F, Araki W, Takahashi K, Tabira T (2001) Apoptotic neurons in Alzheimer's disease frequently show intracellular A-beta42 labeling. J Alzheimer's Dis 3:231-239
6. Crook R, Verkkoniemi A, Perez-Tur J, Mehta N, Baker M, Houlden H, Farrer M, Hutton M, Lincoln S, Hardy J, Gwinn K, Somer M, Paetau A, Kalimo H, Ylikoski R, Poyhonen M, Kucera S, Haltia M. (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
7. Fukatsu R, Ikeda T, Ueno T, Tanabe M, Honma H, Kimura N, Takabatake N (1980) An unusual case of presenile dementia with numerous argentophilic plaques and severe amyloid vascular change (in Japanese with English abstract). Adv Neurol Sci 24:271-282
8. Gravina SA, Ho L, Eckman CB, Long KE, Otvos L Jr, Younkin LH, Suzuki N, Younkin SG (1995) Amyloid beta protein (A beta) in Alzheimer's disease brain. Biochemical and immunocytochemical analysis with antibodies specific for forms ending at A beta 40 or A beta 42(43) J Biol Chem 270: 7013-7016
9. Hamilton RL (2000) Lewy bodies in Alzheimer's disease: a neuropathological review of 145 cases using alpha-synuclein immunohistochemistry. Brain Pathol 10:378-384
10. Hayashi Y, Mii T, Sudo K. (1967) An autopsy case of presenile dementia with senile plaque-like changes (in Japanese with English abstract). Adv Neurol Sci 11:793-800
11. Houlden H, Baker M, McGowan E, Lewis P, Hutton M, Crook R, Wood NW, Kumar-Singh S, Geddes J, Swash M, Scaravilli F, Holton JL, Lashley T, Tomita T, Hashimoto T, Verkkoniemi A, Kalimo H, Somer M, Paetau A, Martin JJ, Van Broeckhoven C, Golde T, Hardy J, Haltia M, Revesz T (2000) 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 48:806-808
12. Hutton M, Busfield F, Wragg M, Crook R, Perez-Tur J, Clark RF, Prihar G, Talbot C, Phillips H, Wright K, Baker M, Lendon C, Duff K, Martinez A, Houlden H, Nichols A, Karran E, Roberts G, Roques P, Rossor M, Venter JC, Adams MD, Cline RT, Phillips CA, Goate A (1996) Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease. Neuroreport 7:801-805
13. Kotzbauer PT, Trojanowski JQ, Lee VM (2001) Lewy body pathology in Alzheimer's disease. J Mol Neurosci 17:225-232
14. Kwok JBJ, Halliday GM, Brooks WS, Dolios G, Laudon H, Murayama O, Hallupp M, Badenhop RF, Vickers J, Wang R, Naslund J, Takashima A, Gandy SE, Schofield PR (2003) Presenilin-1 mutation (leu271val) results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy. J Biol Chem 278:6748-6754
15. Le TV, Crook R, Hardy J, Dickson DW (2001) Cotton wool plaques in non-familial late-onset Alzheimer disease. J Neuropathol Exp Neurol 60:1051-1061
16. Lippa CF, Fujiwara H, Mann DM, Giasson B, Baba M, Schmidt ML, Nee LE, O'Connell B, Pollen DA, St George-Hyslop P, Ghetti B, Nochlin D, Bird TD, Cairns NJ, Lee VM, Iwatsubo T, Trojanowski JQ. (1998) Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes. Am J Pathol 153:1365-1370
17. Mann DM, Pickering-Brown SM, Takeuchi A, Iwatsubo T (2001) Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease. Am J Pathol 158:2165-2175
18. Mann DM, Takeuchi A, Sato S, Cairns NJ, Lantos PL, Rossor MN, Haltia M, Kalimo H, Iwatsubo T (2001) Cases of Alzheimer's disease due to deletion of exon 9 of the presenilin-1 gene show an unusual but characteristic beta-amyloid pathology known as 'cotton wool' plaques. Neuropathol Appl Neurobiol 27:189-196
19. Matsuoka T, Miyoshi K, Saka K, Kawagoe T, Nishikiori T, Suzuki S, Hirabayashi M, Shisozuka T, Suda K, Aoki A, Shimokawa K, Shiraki H (1967) A case of encephalopathy with plaque-like bodies, neurofibrillary change, angiopathy and amyotrophic lateral sclerosis-like lesions (in Japanese with English abstract). Adv Neurol Sci 11:801-811
20. 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
21. Miller BL, Ikonte C, Ponton M, Levy M, Boone K, Darby A, Berman N, Mena I, Cummings JL (1997) A study of the Lund-Manchester research criteria for frontotemporal dementia: clinical and single-photon emission CT correlations. Neurology 48:937-942
22. O'Riordan S, McMonagle P, Janssen JC, Fox NC, Farrell M, Collinge J, Rossor MN, Hutchinson M (2002) Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI whitematter abnormalities. Neurology 59:1108-1110
23. Smith MJ, Kwok JB, McLean CA, Kril JJ, Broe GA, Nicholson GA, Cappai R, Hallupp M, Cotton RG, Masters CL, Schofield PR, Brooks WS (2001) Variable phenotype of Alzheimer's disease with spastic paraparesis. Ann Neurol 49:125-129
24. Steiner H, Revesz T, Neumann M, Romig H, Grim MG, Pesold B, Kretzschmar HA, Hardy J, Holton JL, Baumeister R, Houlden H, Haass C (2001) A pathogenic presenilin-1 deletion causes aberrant A-beta 42 production in the absence of congophilic amyloid plaques. J Biol Chem 276:7233-7239
25. Tabira T, Chui DH, Kuroda S (2002) Significance of intracellular Abeta42 accumulation in Alzheimer's disease. Front Biosci 7:a44-49
26. Tabira T, Chui de H, Nakayama H, Kuroda S, Shibuya M (2002) Alzheimer's disease with spastic paresis and cotton wool type plaques. J Neurosci Res 70:367-372
27. Takao M, Ghetti B, Hayakawa I, Ikeda E, Fukuuchi Y, Miravalle L, Piccardo P, Murrell JR, Glazier BS, Koto A (2002) A novel mutation (G217D) in the presenilin 1 gene (PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum. Acta Neuropathol 104:155-170
28. Takeda A, Hashimoto M, Mallory M, Sundsumo M, Hansen L, Masliah E (2000) C-terminal alpha-synuclein immunoreactivity in structures other than Lewy bodies in neurodegenerative disorders. Acta Neuropathol 99:296-304
29. Terada S, Ishizu H, Yokota O, Tsuchiya K, Nakashima H, Ishihara T, Fujita D, Uéda K, Ikeda K, Kuroda S (2003) Glial involvement in diffuse Lewy body disease. Acta Neuropathol 105: 163-169
30. Tsuchiya K, Ikeda M, Hasegawa K, Fukui T, Kuroiwa T, Haga C, Oyanagi S, Nakano I, Matsushita M, Yagishita S, Ikeda K (2001) Distribution of cerebral cortical lesions in Pick's disease with Pick bodies: a clinicopathological study of six autopsy cases showing unusual clinical presentations. Acta Neuropathol 102:553-571
31. Uéda K, Fukushima H, Masliah E, Xia Y, Iwai A, Yoshimoto M, Otero DAC, Kondo J, Ihara Y, Saitoh T (1993) Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer disease. Proc Natl Acad Sci USA 90: 11282-11286
32. Verkkoniemi A, Somer M, Rinne JO, Myllykangas L, Crook R, Hardy J, Viitanen M, Kalimo H, Haltia M (2000) Variant Alzheimer's disease with spastic paraparesis: clinical characterization. Neurology 54:1103-1109
33. Verkkoniemi A, Kalimo H, Paetau A, Somer M, Iwatsubo T, Hardy J, Haltia M (2001) Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype. J Neuropathol Exp Neurol 60:483-492
34. Wenham PR, Price WH, Blandell G (1991) Apolipoprotein E genotyping by one-stage PCR. Lancet 337:1158-1159
35. Yokota O, Terada S, Ishizu H, Tsuchiya K, Kitamura Y, Ikeda K, Ueda K, Kuroda S (2002) NACP/alpha-synuclein immunoreactivity in diffuse neurofibrillary tangles with calcification (DNTC). Acta Neuropathol 104:333-341
36. Yokota O, Terada S, Ishizu H, Ujike H, Ishihara T, Nakashima H, Yasuda M, Kitamura Y, Ueda K, Checler F, Kuroda S (2002) NACP/alpha-Synuclein, NAC, and beta-amyloid pathology of familial Alzheimer's disease with the E184D presenilin-1 mutation: a clinicopathological study of two autopsy cases. Acta Neuropathol 104:637-648
37. Yokota O, Terada S, Ishizu H, Ishihara T, Ujike H, Nakashima H, Nakashima Y, Kugo A, Checler F, Kuroda S (2003) Cyclooxygenase-2 in the hippocampus is up-regulated in Alzheimer's disease but not in variant Alzheimer's disease with cotton wool plaques in humans. Neurosci Lett 343:175-179