Is the pathology of posterior cortical atrophy clinically predictable?
Alzheimer’s disease
Gerstmann syndrome
frontotemporal lobar degeneration
hallucinations
myoclonus
posterior cortical atrophy
Journal
Reviews in the neurosciences
ISSN: 2191-0200
Titre abrégé: Rev Neurosci
Pays: Germany
ID NLM: 8711016
Informations de publication
Date de publication:
16 12 2022
16 12 2022
Historique:
received:
14
01
2022
accepted:
01
04
2022
pubmed:
7
6
2022
medline:
29
11
2022
entrez:
6
6
2022
Statut:
epublish
Résumé
Posterior cortical atrophy (PCA) is a neurodegenerative disorder characterized by an early prominent deficit of visual functions associated with signs and symptoms that are the expression of dysfunction of posterior brain regions. Although PCA is commonly associated with Alzheimer's disease (AD), in recent years new pathological substrates have emerged. Among them, frontotemporal lobar degeneration (FTLD) is the most commonly reported but, to date, little is known about the clinical features of PCA due to FTLD. We conducted a systematic search in the main biomedical database MEDLINE. We searched for all clinical PCA reports that assessed the pathological basis of such syndrome with at least one of the following: (1) neuropathological examination, (2) cerebrospinal fluid biomarkers, (3) amyloid-PET imaging and (4) genetic testing. Of 369 potentially eligible studies, 40 fulfilled the inclusion criteria with an overall number of 144 patients (127 PCA-AD vs. 17 PCA-FTD/non-AD). We found that hallucinations/illusions were present in none of the probable PCA-FTD/non-AD subjects while were reported in 15 out of 97 PCA-AD individuals. Optic ataxia and Parkinsonism showed a significantly greater prevalence in probable PCA FTD/non-AD than in PCA-AD whereas myoclonus and disorientation in time and space were significantly more frequent in PCA-AD than in probable PCA FTD/non-AD. We also found a predominance of a left-side pattern of atrophy/hypometabolism in the probable PCA FTD/non-AD. Clinical features such as optic ataxia, Parkinsonism, myoclonus, hallucinations and disorientation in time and space suggest the underlying pathological basis of PCA and help in leading the diagnostic protocol consequently.
Identifiants
pubmed: 35659868
pii: revneuro-2022-0003
doi: 10.1515/revneuro-2022-0003
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
849-858Informations de copyright
© 2022 Walter de Gruyter GmbH, Berlin/Boston.
Références
Alladi, S., Xuereb, J., Bak, T., Nestor, P., Knibb, J., Patterson, K., and Hodges, J.R. (2007). Focal cortical presentations of Alzheimer’s disease. Brain 1460-2156, 130(Pt 10): 2636–45, https://doi.org/10.1093/brain/awm213. 17898010.
Beagle, A.J., Darwish, S.M., Ranasinghe, K.G., La, A.L., Karageorgiou, E., and Vossel, K.A. (2017). Relative incidence of seizures and myoclonus in Alzheimer’s disease, dementia with lewy bodies, and frontotemporal dementia. J. Alzheim. Dis. 60: 211–223, https://doi.org/10.3233/jad-170031.
Beaufils, E., Rainfray, D.D., Hommet, C., Brault, F., Cottier, J.P., Ribeiro, M.J., Mondon, K., and Guilloteau, D. (2013). Confirmation of the amyloidogenic process in posterior cortical atrophy: value of the Aβ42/Aβ40 ratio. J. Alzheim. Dis. 33: 775–780, https://doi.org/10.3233/jad-2012-121267.
Benson, D.F., Davis, R.J., and Snyder, B.D. (1988). Posterior cortical atrophy. Arch. Neurol. 45: 789–793, https://doi.org/10.1001/archneur.1988.00520310107024.
Boeve, B.F. and Rosen, H. (2021). Clinical and neuroimaging aspects of familial frontotemporal lobar degeneration associated with MAPT and GRN mutations. Adv. Exp. Med. Biol. 1281: 77–92, https://doi.org/10.1007/978-3-030-51140-1_6.
Caroppo, P., Belin, C., Grabli, D., Maillet, D., Septenville, A.D., Migliaccio, R., Clot, F., Lamari, F., Camuzat, A., Brice, A., et al.. (2015). Posterior cortical atrophy as an extreme phenotype of GRN mutations. JAMA Neurol. 72: 224–228, https://doi.org/10.1001/jamaneurol.2014.3308.
Chan, L.T., Lynch, W., De May, M., Horton, J.C., Miller, B.L., and Rabinovici, G.D. (2015). Prodromal posterior cortical atrophy: clinical, neuropsychological, and radiological correlation. Neurocase 21: 44–55, https://doi.org/10.1080/13554794.2013.860176.
Coppi, E., Ferrari, L., Santangelo, R., Caso, F., Pinto, P., Passerini, G., Comi, G., and Magnani, G. (2014). Further evidence about the crucial role of CSF biomarkers in diagnosis of posterior cortical atrophy. Neurol. Sci. 35: 785–787, https://doi.org/10.1007/s10072-014-1644-5.
Cretin, B., Di Bitonto, L., Blanc, F., and Magnin, E. (2015). Left temporal lobe epilepsy revealing left posterior cortical atrophy due to Alzheimer’s disease. J. Alzheim. Dis. 45: 521–526, https://doi.org/10.3233/jad-141953.
Crutch, S.J., Schott, J.M., Rabinovici, G.D., Murray, M., Snowden, J.S., van der Flier, W.M., Dickerson, B.C., Vandenberghe, R., Ahmed, S., Bak, T.H., et al.. (2017). Alzheimer’s association ISTAART atypical Alzheimer’s disease and associated syndromes professional interest area. Consensus classification of posterior cortical atrophy. Alzheimer’s Dementia 13: 870–884, https://doi.org/10.1016/j.jalz.2017.01.014.
de Souza, R., Grinberg, L.T., Josviak, N.D., De Almeida, D.B., Ramina, R., Kowacs, P.A., and Caramelli, P. (2018). A patient with posterior cortical atrophy due to Alzheimer’s disease. Dement. Neuropsychol. 12: 326–328, https://doi.org/10.1590/1980-57642018dn12-030015.
Dubois, B., Feldman, H.H., Jacova, C., Hampel, H., Molinuevo, J.L., Blennow, K., DeKosky, S.T., Gauthier, S., Selkoe, D., Bateman, R., et al.. (2014). Advancing research diagnostic criteria for Alzheimer’s disease: the IWG-2 criteria. Lancet Neurol. 13: 614–629, https://doi.org/10.1016/s1474-4422(14)70090-0.
Duker, A.P., Espay, A.J., Wszolek, Z.K., Rademakers, R., Dickson, D.W., and Kelley, B.J. (2012). Atypical motor and behavioral presentations of Alzheimer disease: a case-based approach. Neurologist 18: 266–272, https://doi.org/10.1097/nrl.0b013e3182675376.
Fitzpatrick, D., Blanco-Campal, A., and Kyne, L. (2019). A case of overlap posterior cortical atrophy and logopenic variant primary progressive aphasia. Neurologist 24: 62–65, https://doi.org/10.1097/nrl.0000000000000225.
Giunta, M., Libri, I., Premi, E., Brattini, C., Paghera, B., Archetti, S., Gasparotti, R., Padovani, A., Borroni, B., and Benussi, A. (2021). Clinical and radiological features of posterior cortical atrophy (PCA) in a GRN mutation carrier: a case report. Eur. J. Neurol. 28: 344–348, https://doi.org/10.1111/ene.14574.
Hadjikhani, N. and De Gelder, B. (2002). Neural basis of prosopagnosia: an fMRI study. Hum. Brain Mapp. 16: 176–182, https://doi.org/10.1002/hbm.10043.
Hassan, A., Whitwell, J.L., and Josephs, K.A. (2011). The corticobasal syndrome-Alzheimer’s disease conundrum. Expert Rev. Neurother. 11: 1569–1578, https://doi.org/10.1586/ern.11.153.
Hu, W.T., Rippon, G.W., Boeve, B.F., Knopman, D.S., Petersen, R.C., Parisi, J.E., and Josephs, K.A. (2009). Alzheimer’s disease and corticobasal degeneration presenting as corticobasal syndrome. Mov. Disord. 24: 1375–1379, https://doi.org/10.1002/mds.22574.
Jellinger, K.A., Grazer, A., Petrovic, K., Ropele, S., Alpi, G., Kapeller, P., Ströbel, T., and Schmidt, R. (2011). Four-repeat tauopathy clinically presenting as posterior cortical atrophy: atypical corticobasal degeneration? Acta Neuropathol. 121: 267–277, https://doi.org/10.1007/s00401-010-0712-z.
Kas, A., Souza, L.C.D., Samri, D., Bartolomeo, P., Lacomblez, L., Kalafat, M., Migliaccio, R., Schotten, M.T.D., Cohen, L., Dubois, B., et al.. (2011). Neural correlates of cognitive impairment in posterior cortical atrophy. Brain 134: 1464–1478, https://doi.org/10.1093/brain/awr055.
Kawakatsu, S., Kobayashi, R., and Hayashi, H. (2017). Typical and atypical appearance of early-onset Alzheimer’s disease: a clinical, neuroimaging and neuropathological study. Neuropathology 37: 150–173, https://doi.org/10.1111/neup.12364.
Koch, G., Stefani, A., Panella, M., Giordano, A., Schillaci, O., and Marfia, G.A. (2004). Posterior cortical atrophy with unilateral occipito-temporal degeneration. J. Neurol. 251: 1530–1531, https://doi.org/10.1007/s00415-004-0573-2.
Liberati, A., Altman, D.G., Tetzlaff, J., Mulrow, C., Gøtzsche, P.C., Ioannidis, J.P., Clarke, M., Devereaux, P.J., Kleijnen, J., and Moher, D. (2009). The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate healthcare interventions: explanation and elaboration. Br. Med. J. 339: b2700, https://doi.org/10.1136/bmj.b2700.
Lorusso, S., Maioli, C., and Barvas, E. (2020). Pure allocentric unilateral spatial neglect in a case of Alzheimer’s disease presenting with posterior cortical atrophy syndrome. Neurol. Sci. 41: 1619–1621, https://doi.org/10.1007/s10072-019-04235-1.
Mares, I., Custodio, P., Fonseca, J., Bentes, C., Guerreiro, M., Guimarães, N., and Pavão Martins, I. (2015). To read or not to read: a neurophysiological study. Neurocase 21: 793–801, https://doi.org/10.1080/13554794.2015.1013137.
Mendez, M.F., Ghajarania, M., and Perryman, K.M. (2002). Posterior cortical atrophy: clinical characteristics and differences compared to Alzheimer’s disease. Dement. Geriatr. Cognit. Disord. 14: 33–40, https://doi.org/10.1159/000058331.
Merdes, A.R., Hansen, L.A., Jeste, D.V., Galasko, D., Hofstetter, C.R., Ho, G.J., Thal, L.J., and Bloom, J.D. (2003). Influence of Alzheimer pathology on clinical diagnostic accuracy in dementia with Lewy bodies. Neurology 60: 1586–1590, https://doi.org/10.1212/01.wnl.0000065889.42856.f2.
Meyer, M.A. and Hudock, S.A. (2018). Posterior cortical atrophy: a rare variant of Alzheimer’s disease. Neurol. Int. 10: 7665, https://doi.org/10.4081/ni.2018.7665.
Migliaccio, R., Gallea, C., Kas, A., Perlbarg, V., Samri, D., Trotta, L., Michon, A., Lacomblez, L., Dubois, B., Lehericy, S., et al.. (2016). Functional connectivity of ventral and dorsal visual streams in posterior cortical atrophy. J. Alzheim. Dis. 51: 1119–1130, https://doi.org/10.3233/jad-150934.
Mitchell, S.B., Lucente, D., Larvie, M., Cobos, M.I., Frosch, M., and Dickerson, B.C. (2017). A 63-year-old man with progressive visual symptoms. JAMA Neurol. 74: 114–118, https://doi.org/10.1001/jamaneurol.2016.2210.
Murad, M.H., Sultan, S., Haffar, S., and Bazerbachi, F. (2018). Methodological quality and synthesis of case series and case reports. Br. Med. J. Evid. Base Med. 23: 60–63, https://doi.org/10.1136/bmjebm-2017-110853.
Nedelska, Z., Josephs, K.A., Radford, J.G., Przybelski, S.A., Lesnick, T.G., Boeve, B.F., Drubach, D.A., Knopman, D.S., Petersen, R.C., Jack, C.R.Jr, et al.. (2019). 18 F-AV-1451 uptake differs between dementia with lewy bodies and posterior cortical atrophy. Mov. Disord. 34: 344–352, https://doi.org/10.1002/mds.27603.
Ossenkoppele, R., Schonhaut, D.R., Baker, S.L., O’Neil, J.P., Janabi, M., Ghosh, P.M., Santos, M., Miller, Z.A., Bettcher, B.M., Gorno-Tempini, M.L., et al.. (2015). Tau, amyloid, and hypometabolism in a patient with posterior cortical atrophy. Ann. Neurol. 77: 338–342, https://doi.org/10.1002/ana.24321.
Pavisic, I.M., Yong, K., Primativo, S., Crutch, S.J., and Suarez Gonzalez, A. (2019). Unusual pattern of reading errors in a patient with posterior cortical atrophy. Case Rep. Neurol. 11: 157–166, https://doi.org/10.1159/000500081.
Pelak, V.S., Smyth, S.F., Boyer, P.J., and Filley, C.M. (2011). Computerized visual field defects in posterior cortical atrophy. Neurology 77: 2119–2122, https://doi.org/10.1212/wnl.0b013e31823e9f2a.
Pellegrini, F., Lee, A.G., and Zucchetta, P. (2017). Homonymous hemianopsia due to posterior cortical atrophy. J. Neuro Ophthalmol. 41: 154–158, https://doi.org/10.1080/01658107.2016.1278556.
Peng, G., Liu, P., He, F., and Luo, B. (2016). Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype. Orphanet J. Rare Dis. 11: 13, https://doi.org/10.1186/s13023-016-0396-0.
Pitcher, D., Walsh, V., and Duchaine, B. (2011). The role of the occipital face area in the cortical face perception network. Exp. Brain Res. 209: 481–493, https://doi.org/10.1007/s00221-011-2579-1.
Ren, X., Lu, J., Liu, X., Shen, C., Zhang, X., Ma, X., Sun, J., Sun, G., Feng, K., Xu, B., et al.. (2017). Decreased prefrontal brain activation during verbal fluency task in patients with somatoform pain disorder: an exploratory multi-channel near-infrared spectroscopy study. Prog. Neuro-Psychopharmacol. Biol. Psychiatry 78: 153–160, https://doi.org/10.1016/j.pnpbp.2017.05.006.
Reñé, R., Muñoz, S., Campdelacreu, J., Bayarri, J.G., Rico, I., Juncadella, M., and Arruga, J. (2012). Complex visual manifestations of posterior cortical atrophy. J. Neuro Ophthalmol. 32: 307–312.
Renner, J.A., Burns, J.M., Hou, C.E., McKeel, D.W.Jr, Storandt, M., and Morris, J.C. (2004). Progressive posterior cortical dysfunction: a clinicopathologic series. Neurology 63: 1175–1180, https://doi.org/10.1212/01.wnl.0000140290.80962.bf.
Robinson, J.L., Lee, E.B., Xie, S.X., Rennert, L., Suh, E., Bredenberg, C., Caswell, C., Van Deerlin, V.M., Yan, N., Yousef, A., et al.. (2018). Neurodegenerative disease concomitant proteinopathies are prevalent, age-related and APOE4-associated. Brain 141: 2181–2193, https://doi.org/10.1093/brain/awy146.
Rocher, L., Evrard, C., Evain, S., and Boutoleau-Bretonnière, C. (2020). When posterior cortical atrophy invests art: a case report. Neurocase 26: 171–174, https://doi.org/10.1080/13554794.2020.1764054.
Rosini, F., Serchi, V., Tirelli, L., Di Toro Mammarella, L., Pucci, B., Federico, A., and Rufa, A. (2017). Progression of oculomotor deficit in a patient with posterior cortical atrophy. J. Neurol. Sci. 372: 459–463, https://doi.org/10.1016/j.jns.2016.10.049.
Rossi, G., Bastone, A., Piccoli, E., Morbin, M., Mazzoleni, G., Fugnanesi, V., Beeg, M., Del Favero, E., Cantù, L., Motta, S., et al.. (2014). Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features. Neurobiol. Aging 35: 408–417, https://doi.org/10.1016/j.neurobiolaging.2013.08.004.
Rossor, M.N., Fox, N.C., Mummery, C.J., Schott, J.M., and Warren, J.D. (2010). The diagnosis of young-onset dementia. Lancet Neurol. 9: 793–806, https://doi.org/10.1016/s1474-4422(10)70159-9.
Salvadori, N., Russo, M., Biscetti, L., D’ Andrea, K., Dottorini, M.E., and Parnetti, L. (2018). Case of posterior cortical atrophy (PCA) evolved to PCA-CBS. Br. Med. J. Case Rep. 2018: bcr2018224312, https://doi.org/10.1136/bcr-2018-224312.
Schintu, S., Bouziane, F.H., Monte, O.D., Knutson, K.M., Pardini, M., Wassermann, E.M., Grafman, J., and Krueger, F. (2014). Object and space perception – is it a matter of hemisphere? Cortex 57: 244–253, https://doi.org/10.1016/j.cortex.2014.04.009.
Shea, Y.F. and Chu, L.W. (2014). Visual field defect as an uncommon presentation of posterior cortical atrophy. Geriatr. Gerontol. Int. 14: 1003–1004, https://doi.org/10.1111/ggi.12203.
Shelley, B.P., Hodges, J.R., Kipps, C.M., Xuereb, J.H., and Bak, T.H. (2009). Is the pathology of corticobasal syndrome predictable in life? Mov. Disord. 24: 1593–1599, https://doi.org/10.1002/mds.22558.
Singh, T.D., Josephs, K.A., Machulda, M.M., Drubach, D.A., Apostolova, L.G., Lowe, V.J., and Whitwell, J.L. (2015). Clinical, FDG and amyloid PET imaging in posterior cortical atrophy. J. Neurol. 262: 1483–1492, https://doi.org/10.1007/s00415-015-7732-5.
Sitek, E.J., Narożańska, E., Pepłońska, B., Filipek, S., Barczak, A., Styczyńska, M., Mlynarczyk, K., Brockhuis, B., Portelius, E., Religa, D., et al.. (2013). A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene. PLoS One 8: e61074, https://doi.org/10.1371/journal.pone.0061074.
Snowden, J.S., Stopford, C.L., Julien, C.L., Thompson, J.C., Davidson, Y., Gibbons, L., Pritchard, A., Lendon, C.L., Richardson, A.M., Varma, A., et al.. (2007). Cognitive phenotypes in Alzheimer’s disease and genetic risk. Cortex 43: 835–845, https://doi.org/10.1016/s0010-9452(08)70683-x.
Spagnolo, F., Ceppi, D., Cardamone, R., Falautano, M., Martinelli, V., Comi, G., Perani, D., and Volonté, M.A. (2011). Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy. Mov. Disord. 26: 2131–2132, https://doi.org/10.1002/mds.23768.
Sugimoto, A., Koyama, S., Midorikawa, A., Futamura, A., Ishiwata, K., Ishii, K., Miller, M.W., and Kawamura, M. (2012). Is this a new type of primary prosopagnosia, both progressive and apperceptive? Neuropsychiatric Dis. Treat. 8: 169–173, https://doi.org/10.2147/NDT.S30541.
Tang-Wai, D.F., Radford, N.R.G., Boeve, B.F., Dickson, D.W., Parisi, J.E., Crook, R., Caselli, R.J., Knopman, D.S., and Petersen, R.C. (2004). Clinical, genetic, and neuropathologic characteristics of posterior cortical atrophy. Neurology 63: 1168–1174, https://doi.org/10.1212/01.wnl.0000140289.18472.15.
Tenovuo, O., Kemppainen, N., Aalto, S., Någren, K., and Rinne, J.O. (2008). Posterior cortical atrophy: a rare form of dementia with in vivo evidence of amyloid-β accumulation. J. Alzheim. Dis. 15: 351–355, https://doi.org/10.3233/jad-2008-15301.
Ulugut Erkoyun, H., Groot, C., Heilbron, R., Nelissen, A., van Rossum, J., Jutten, R., Koene, T., van der Flier, W.M., Wattjes, M.P., Scheltens, P., et al.. (2020). A clinical-radiological framework of the right temporal variant of frontotemporal dementia. Brain 143: 2831–2843, https://doi.org/10.1093/brain/awaa225.
Victoroff, J., Ross, G.W., Benson, D.F., Verity, M.A., and Vinters, H.V. (1994). Posterior cortical atrophy. Neuropathologic correlations. Arch Neurol 0003-9942, 51(3): 269–74, doi:https://doi.org/10.1001/archneur.1994.00540150063018. 8129638.
Wagner, M.T., Szeles, D.M., Mulder, B., Sohn, M., and Walker, A. (2018). Posterior cortical atrophy of a suspected non-Alzheimer type: a case report. Clin. Neuropsychol. 32: 720–738, https://doi.org/10.1080/13854046.2017.1391331.
Whiting, P.F., Rutjes, A.W., Westwood, M.E., Mallett, S., Deeks, J.J., Reitsma, J.B., Leeflang, M.M., Sterne, J.A., Bossuyt, P.M., and QUADAS-2 Group. (2011). QUADAS-2: a revised tool for the quality assessment of diagnostic accuracy studies. Ann. Intern. Med. 155: 529–536, https://doi.org/10.7326/0003-4819-155-8-201110180-00009.
Whitwell, J.L., Radford, J.G., Singh, T.D., Drubach, D.A., Senjem, M.L., Spychalla, A.J., Tosakulwong, N., Lowe, V.J., and Josephs, K.A. (2017). 18F-FDG PET in posterior cortical atrophy and dementia with lewy bodies. J. Nucl. Med. 58: 632–638, https://doi.org/10.2967/jnumed.116.179903.
Yee, E., Popuri, K., Beg, M.F., and Alzheimer’s Disease Neuroimaging Initiative. (2020). Quantifying brain metabolism from FDG-PET images into a probability of Alzheimer’s dementia score. Hum. Brain Mapp. 41: 5–16, https://doi.org/10.1002/hbm.24783.
Zangrandi, A., Mioli, A., Falato, E., Ranieri, F., Di Pino, G., and Di Lazzaro, V. (2020). ‘I see colors when I touch them’. Color agnosia with visuo-tactile facilitation in a patient with posterior cortical atrophy. Clin. Neurol. Neurosurg. 192: 105747, https://doi.org/10.1016/j.clineuro.2020.105747.