Required techniques and useful molecular markers in the neuropathologic diagnosis of neurodegenerative diseases

Arima K, Ueda K, Sunohara N, Arakawa K, Hirai S, Nakamura M, Tonozuka-Uehara H, Kawai M (1998) NACP/alpha-synuclein immunoreactivity in fibrillary components of neuronal and oligodendroglial cytoplasmic inclusions in the pontine nuclei in multiple system atrophy. Acta Neuropathol 96:439–444 Askanas V, Engel WK, Alvarez RB (1993) Enhanced detection of congo-red-positive amyloid deposits in muscle fibers of inclusion body myositis and brain of Alzheimer’s disease using fluorescence technique. Neurology 43:1265–1267 Bigio EH, Weiner MF, Bonte FJ, White CL (1997) Familial dementia due to adult polyglucosan body disease. Clin Neuropathol 16:227–234 Braak E, Braak H (1999) Silver staining method for demonstrating Lewy bodies in Parkinson’s disease and argyrophilic oligodendrocytes in multiple system atrophy. J Neurosci Methods 87:111–115 Braak H, Braak E (1989) Cortical and subcortical argyrophilic grains characterize a disease associated with adult onset dementia. Neuropathol Appl Neurobiol 15:13–26 Braak H, Braak E (1991) Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol 82:239–259 Braak H, Braak E, Ohm T, Bohl J (1988) Silver impregnation of Alzheimer’s neurofibrillary changes counterstained for basophilic material and lipofuscin pigment. Stain Technol 63:197–200 Braak H, Sandmann-Keil D, Gai W, Braak E (1999) Extensive axonal Lewy neurites in Parkinson’s disease: a novel pathological feature revealed by alpha-synuclein immunocytochemistry. Neurosci Lett 265:67–69 Budka H, Aguzzi A, Brown P, Brucher JM, Bugiani O, Collinge J, Diringer H, Gullotta F, Haltia M, Hauw JJ (1995) Tissue handling in suspected Creutzfeldt-Jakob disease (CJD) and other human spongiform encephalopathies (prion diseases). Brain Pathol 5:319–322 Buee L, Bussiere T, Buee-Scherrer V, Delacourte A, Hof PR (2000) Tau protein isoforms, phosphorylation and role in neurodegenerative disorders. Brain Res Brain Res Rev 33:95–130 Cairns NJ, Uryu K, Bigio EH, Mackenzie IR, Gearing M, Duyckaerts C, Yokoo H, Nakazato Y, Jaros E, Perry RH, Arnold SE, Lee VM, Trojanowski JQ (2004) α-Internexin aggregates are abundant in neuronal intermediate filament inclusion disease (NIFID) but rare in other neurodegenerative diseases. Acta Neuropathol 108:213–223 Clayton DF, George JM (1998) The synucleins: a family of proteins involved in synaptic function, plasticity, neurodegeneration and disease. Trends Neurosci 21:249–254 Davis RL, Shrimpton AE, Holohan PD, Bradshaw C, Feiglin D, Collins GH, Sonderegger P, Kinter J, Becker LM, Lacbawan F, Krasnewich D, Muenke M, Lawrence DA, Yerby MS, Shaw CM, Gooptu B, Elliott PR, Finch JT, Carrell RW, Lomas DA (1999) Familial dementia caused by polymerization of mutant neuroserpin. Nature 401:376–379 De Silva R, Lashley T, Gibb G, Hanger D, Hope A, Reid A, Bandopadhyay R, Utton M, Strand C, Jowett T, Khan N, Anderton B, Wood N, Holton J, Revesz T, Lees A (2003) Pathological inclusion bodies in tauopathies contain distinct complements of tau with three or four microtubule-binding repeat domains as demonstrated by new specific monoclonal antibodies. Neuropathol Appl Neurobiol 29:288–302 Dickson DW (1997) Pathogenesis of senile plaques. J Neuropathol Exp Neurol 56:321–339 Dickson DW (1999) Neuropathologic differentiation of progressive supranuclear palsy and corticobasal degeneration. J Neurol 246 Suppl 2:6–15 Dickson DW (2003) Neurodegeneration: the molecular pathology of dementia and movement disorders. ISN Neuropath Press, Basel Dickson DW (2004) Sporadic tauopathies: Pick’s disease, corticobasal degeneration, progressive supranuclear palsy and argyrophilic grain disease. In: Esiri MM, Lee VM-Y, Trojanowski JQ (eds) The neuropathology of dementia, 2nd edn. Cambridge University Press, New York, pp 227–256 Dickson DW, Yen S-H, Suzuki KI, Davies P, Garcia JH, Hirano A (1986) Ballooned neurons in select neurodegenerative diseases contain phosphorylated neurofilament epitopes. Acta Neuropathol (Berl) 71:216–223 Dickson DW, Wertkin A, Kress Y, Ksiezak-Reding H, Yen SH (1990) Ubiquitin immunoreactive structures in normal human brains. Distribution and developmental aspects. Lab Invest 63:87–99 Dickson DW, Bergeron C, Chin SS, Duyckaerts C, Horoupian D, Ikeda K, Jellinger K, Lantos PL, Lippa CF, Mirra SS, Tabaton M, Vonsattel JP, Wakabayashi K, Litvan I (2002) Office of Rare Diseases of the National Institutes of Health. Office of Rare Diseases neuropathologic criteria for corticobasal degeneration. J Neuropathol Exp Neurol 61:935–946 DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP, Aronin N (1997) Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277:1990–1993 Duyckaerts C, Dickson DW (2003) Neuropathology of Alzheimer’s disease. In: Dickson DW (ed) Neurodegeneration: the molecular pathology of dementia and movement disorders. ISN Neuropath Press, Basel, pp 47–65 Foster NL, Wilhelmsen K, Sima AAF, Jones MZ, D’Amato CJ, Gilman S, and Conference Participants (1997) Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Ann Neurol 41:706–715 Ghetti B, Bugiani O, Tagliavini F, Piccardo P (2003) Gerstmann-Sträussler-Scheinker disease. In: Dickson DW (ed) Neurodegeneration: the molecular pathology of dementia and movement disorders. ISN Neuropath Press, Basel, pp 318–325 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 Grober E, Dickson D, Sliwinski MJ, Buschke H, Katz M, Crystal H, Lipton RB (1999) Memory and mental status correlates of modified Braak staging. Neurobiol Aging 20:573–579 Hamilton RL (2000) Lewy bodies in Alzheimer’s disease: a neuropathological review of 145 cases using alpha-synuclein immunohistochemistry. Brain Pathol 10:378–384 Hogg M, Grujic ZM, Baker M, Demirci S, Guillozet AL, Sweet AP, Herzog LL, Weintraub S, Mesulam MM, LaPointe NE, Gamblin TC, Berry RW, Binder LI, Silva R de, Lees A, Espinoza M, Davies P, Grover A, Sahara N, Ishizawa T, Dickson D, Yen SH, Hutton M, Bigio EH (2003) The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy. Acta Neuropathol 106:323–336 http://www.alzforum.org/res/com/ant/ Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, Graaff E de, Wauters E, Baren J van, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Heutink P (1998) Association of missense and 5’-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393:702–705 Hyman BT, Trojanowski JQ (1997) Consensus recommendations for the postmortem diagnosis of Alzheimer disease from the National Institute on Aging and the Reagan Institute Working Group on diagnostic criteria for the neuropathological assessment of Alzheimer disease. J Neuropathol Exp Neurol 56:1095–1097 Iqbal K, Braak E, Braak H, Zaidi T, Grundke-Iqbal I (1991) A silver impregnation method for labeling both Alzheimer paired helical filaments and their polypeptides separated by sodium dodecyl sulfate-polyacrylamide gel electrophoresis. Neurobiol Aging 12:357–361 Irizarry MC, Growdon W, Gomez-Isla T, Newell K, George JM, Clayton DF, Hyman BT (1998) Nigral and cortical Lewy bodies and dystrophic nigral neurites in Parkinson’s disease and cortical Lewy body disease contain alpha-synuclein immunoreactivity. J Neuropathol Exp Neurol 57:334–337 Ishizawa T, Ko LW, Cookson N, Davies P, Espinoza M, Dickson DW (2002) Selective neurofibrillary degeneration of the hippocampal CA2 sector is associated with four-repeat tauopathies. J Neuropathol Exp Neurol 61:1040–1047 Iwatsubo T, Saido TC, Mann DM, Lee VM, Trojanowski JQ (1996) Full-length amyloid-beta (1–42(43)) and amino-terminally modified and truncated amyloid-beta 42(43) deposit in diffuse plaques. Am J Pathol 149:1823–1830 Iwatsubo T, Yamaguchi H, Fujimuro M, Yokosawa H, Ihara Y, Trojanowski JQ, Lee VM (1996) Purification and characterization of Lewy bodies from the brains of patients with diffuse Lewy body disease. Am J Pathol 148:1517–1529 Jellinger KA (2002) The pathology of ischemic-vascular dementia: an update. J Neurol Sci 203–204:153–157 Josephs KA, Holton JL, Rossor MN, Braendgaard H, Ozawa T, Fox NC, Petersen RC, Pearl GS, Ganguly M, Rosa P, Laursen H, Parisi JE, Waldemar G, Quinn NP, Dickson DW, Revesz T (2003) Neurofilament inclusion body disease: a new proteinopathy? Brain 126:2291–2303 Josephs KA, Holton JL, Rossor MN, Godbolt AK, Ozawa T, Strand K, Khan N, Al-Sarraj S, Revesz T (2004) Frontotemporal lobar degeneration and ubiquitin immunohistochemistry. Neuropathol Appl Neurobiol 30:369–373 Kahle PJ, Neumann M, Ozmen L, Muller V, Odoy S, Okamoto N, Jacobsen H, Iwatsubo T, Trojanowski JQ, Takahashi H, Wakabayashi K, Bogdanovic N, Riederer P, Kretzschmar HA, Haass C (2001) Selective insolubility of alpha-synuclein in human Lewy body diseases is recapitulated in a transgenic mouse model. Am J Pathol 159:2215–2225 Knopman DS, Mastri AR, Frey WH 2nd, Sung JH, Rustan T (1990) Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative dementia. Neurology 40:251–256 Kovacs GG, Voigtlander T, Hainfellner JA, Budka H (2002) Distribution of intraneuronal immunoreactivity for the prion protein in human prion diseases. Acta Neuropathol 104:320–326 Kuo YM, Kokjohn TA, Beach TG, Sue LI, Brune D, Lopez JC, Kalback WM, Abramowski D, Sturchler-Pierrat C, Staufenbiel M, Roher AE (2001) Comparative analysis of amyloid-beta chemical structure and amyloid plaque morphology of transgenic mouse and Alzheimer’s disease brains. J Biol Chem 276:12991–12998 Lamy C, Duyckaerts C, Delaere P, Payan C, Fermanian J, Poulain V, Hauw JJ (1989) Comparison of seven staining methods for senile plaques and neurofibrillary tangles in a prospective series of 15 elderly patients. Neuropathol Appl Neurobiol 15:563–578 Lantos PL (1998) The definition of multiple system atrophy: a review of recent developments. J Neuropathol Exp Neurol 57:1099–1111 Lee VM, Goedert M, Trojanowski JQ (2001) Neurodegenerative tauopathies. Annu Rev Neurosci 24:1121–1159 Lennox G, Lowe J, Morrell K, Landon M, Mayer RJ (1989) Anti-ubiquitin immunocytochemistry is more sensitive than conventional techniques in the detection of diffuse Lewy body disease. J Neurol Neurosurg Psychiatry 52:67–71 Lin WL, DeLucia MW, Dickson DW (2004) Alpha-Synuclein immunoreactivity in neuronal nuclear inclusions and neurites in multiple system atrophy. Neurosci Lett 354:99–102 Lipton AM, White CL 3rd, Bigio EH (2004) Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration. Acta Neuropathol 108:379–385 Lowe J, Dickson D (1997) Pathological diagnostic criteria for dementia associated with cortical Lewy bodies: review and proposal for a descriptive approach. J Neural Transm Suppl 51:111–120 Lowe J, Errington DR, Lennox G, Pike I, Spendlove I, Landon M, Mayer RJ (1992) Ballooned neurons in several neurodegenerative diseases and stroke contain alphaB-crystallin. Neuropathol Appl Neurobiol 18:341–350 McKee AC, Kosik KS, Kowall NW (1991) Neuritic pathology and dementia in Alzheimer’s disease. Ann Neurol 30:156–165 McKeith I, Mintzer J, Aarsland D, Burn D, Chiu H, Cohen-Mansfield J, Dickson D, Dubois B, Duda JE, Feldman H, Gauthier S, Halliday G, Lawlor B, Lippa C, Lopez OL, Carlos Machado J, O’Brien J, Playfer J, Reid W (2004) International Psychogeriatric Association Expert Meeting on DLB. Dementia with Lewy bodies. Lancet Neurol 3:19–28 Mena R, Edwards P, Perez-Olvera O, Wischik CM (1995) Monitoring pathological assembly of tau and beta-amyloid proteins in Alzheimer’s disease. Acta Neuropathol 89:50–56 Mirra SS, Hart MN, Terry RD (1993) Making the diagnosis of Alzheimer’s disease. A primer for practicing pathologists. Arch Pathol Lab Med 117:132–144 Montero C (2003) The antigen-antibody reaction in immunohistochemistry. J Histochem Cytochem 51:1–4 Munoz DG (1991) The pathological basis of multi-infarct dementia. Alzheimer Dis Assoc Disord 5:77–90 Munoz DG (1999) Stains for the differential diagnosis of degenerative dementias. Biotech Histochem 74:311–320 Petrucelli L, Dawson TM (2004) Mechanism of neurodegenerative disease: role of the ubiquitin proteasome system. Ann Med 36:315–320 Phillips LL, Autilio-Gambetti L, Lasek RJ (1983) Bodian’s silver method reveals molecular variation in the evolution of neurofilament proteins. Brain Res 278:219–223 Pollanen MS, Dickson DW, Bergeron C (1993) Pathology and biology of the Lewy body. J Neuropathol Exp Neurol 52:183–191 Revesz T, Ghiso J, Plant GT, Holton JL, Frangione B (2003) Inherited amyloidoses and neurodegeneration: familial British dementia and familial Danish dementia. In: Dickson DW (ed) Neurodegeneration: the molecular pathology of dementia and movement disorders. ISN Neuropath Press, Basel, pp 380–385 Rosso SM, Swieten JC van (2002) New developments in frontotemporal dementia and parkinsonism linked to chromosome 17. Curr Opin Neurol 15:423–428 Schmidt ML, Martin JA, Lee VM, Trojanowski JQ (1996) Convergence of Lewy bodies and neurofibrillary tangles in amygdala neurons of Alzheimer’s disease and Lewy body disorders. Acta Neuropathol 91:475–481 Schultz C, Ghebremedhin E, Del Tredici K, Rub U, Braak H (2004) High prevalence of thorn-shaped astrocytes in the aged human medial temporal lobe. Neurobiol Aging 25:397–405 Schwartz P (1970) Cerebral changes in the aged caused by amyloid deposits. In: Amyloidosis: causes and manifestation of senile dementia. Thomas, Springfield, pp 42–80 Selkoe DJ (2002) Deciphering the genesis and fate of amyloid beta-protein yields novel therapies for Alzheimer disease. J Clin Invest 110:1375–1381 Shi SR, Cote RJ, Taylor CR (2001) Antigen retrieval techniques: current perspectives. J Histochem Cytochem 49:931–937 Spillantini MG, Crowther RA, Jakes R, Cairns NJ, Lantos PL, Goedert M (1998) Filamentous alpha-synuclein inclusions link multiple system atrophy with Parkinson’s disease and dementia with Lewy bodies. Neurosci Lett 251:205–208 Spillantini MG, Crowther RA, Jakes R, Hasegawa M, Goedert M (1998) alpha-Synuclein in filamentous inclusions of Lewy bodies from Parkinson’s disease and dementia with Lewy bodies. Proc Natl Acad Sci USA 95:6469–6473 Sternberger LA, Sternberger NH (1983) Monoclonal antibodies distinguish phosphorylated and nonphosphorylated forms of neurofilaments in situ. Proc Natl Acad Sci USA 80:6126–6130 Tagliavini F, Giaccone G, Frangione B, Bugiani O (1988) Preamyloid deposits in the cerebral cortex of patients with Alzheimer’s disease and nondemented individuals. Neurosci Lett 93:191–196 Takeda A, Hashimoto M, Mallory M, Sundsumo M, Hansen L, Sisk A, Masliah E (1998) Abnormal distribution of the non-Abeta component of Alzheimer’s disease amyloid precursor/alpha-synuclein in Lewy body disease as revealed by proteinase K and formic acid pretreatment. Lab Invest 78:1169–1177 Tekirian TL, Cole GM, Russell MJ, Yang F, Wekstein DR, Patel E, Snowdon DA, Markesbery WR, Geddes JW (1996) Carboxy terminal of beta-amyloid deposits in aged human, canine, and polar bear brains. Neurobiol Aging 17:249–257 Togo T, Sahara N, Yen SH, Cookson N, Ishizawa T, Hutton M, Silva R de, Lees A, Dickson DW (2002) Argyrophilic grain disease is a sporadic 4-repeat tauopathy. J Neuropathol Exp Neurol 61:547–556 Trojanowski JQ, Dickson D (2001) Update on the neuropathological diagnosis of frontotemporal dementias J Neuropathol Exp Neurol 60:1123–1126 Uchihara T, Nakamura A, Yamazaki M, Mori O (2000) Tau-positive neurons in corticobasal degeneration and Alzheimer’s disease—distinction by thiazin red and silver impregnations. Acta Neuropathol 100:385–389 Uchihara T, Tsuchiya K, Nakamura A, Ikeda K (2000) Appearance of tau-2 immunoreactivity in glial cells in human brain with cerebral infarction. Neurosci Lett 286:99–102 Vidal R, Ghetti B, Takao M, Brefel-Courbon C, Uro-Coste E, Glazier BS, Siani V, Benson MD, Calvas P, Miravalle L, Rascol O, Delisle MB (2004) Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. J Neuropathol Exp Neurol 63:363–380 Vinters HV, Ellis WG, Zarow C, Zaias BW, Jagust WJ, Mack WJ, Chui HC (2000) Neuropathologic substrates of ischemic vascular dementia. J Neuropathol Exp Neurol 59:931–945 Wakabayashi K, Hayashi S, Yoshimoto M, Kudo H, Takahashi H (2000) NACP/alpha-synuclein-positive filamentous inclusions in astrocytes and oligodendrocytes of Parkinson’s disease brains. Acta Neuropathol 99:14–20 Woulfe J, Kertesz A, Munoz DG (2001) Frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions. Acta Neuropathol (Berl) 102:94–102 Yamaguchi H, Hirai S, Morimatsu M, Shoji M, Ihara Y (1988) A variety of cerebral amyloid deposits in the brains of the Alzheimer-type dementia demonstrated by beta protein immunostaining. Acta Neuropathol 76:541–549 Yamamoto T, Hirano A (1986) A comparative study of modified Bielschowsky, Bodian and thioflavin S stains on Alzheimer’s neurofibrillary tangles. Neuropathol Appl Neurobiol 12:3–9 Zhukareva V, Mann D, Pickering-Brown S, Uryu K, Shuck T, Shah K, Grossman M, Miller BL, Hulette CM, Feinstein SC, Trojanowski JQ, Lee VM (2002) Sporadic Pick’s disease: a tauopathy characterized by a spectrum of pathological tau isoforms in gray and white matter. Ann Neurol 51:730–739