Overlapping of Neurodegenerative Dementias
Authors:
Z. Rohan 1; R. Matěj 1–3; R. Rusina 3,4
Authors‘ workplace:
Oddělení patologie a molekulární medicíny, Thomayerova nemocnice, Praha
1; Ústav patologie, 3. LF UK v Praze
2; Neurologická klinika a Centrum klinických neurověd, 1. LF UK a VFN v Praze
3; Neurologické oddělení, Thomayerova nemocnice, Praha
4
Published in:
Cesk Slov Neurol N 2015; 78/111(6): 641-648
Category:
Review Article
doi:
https://doi.org/10.14735/amcsnn2015641
Overview
Neuropathological diagnostic criteria of neurodegenerative disorders are based on the presence of specific lesions in the brain tissue that correlate with clinical symptoms. Concomitant neurodegenerative disorders correspond to a combination of two (or more) different fully developed diseases in one patient. Concomitant neurodegenerative pathology stays for the presence of a definite neurodegeneration and deposits specific for another, but not fully developed, disease. Frequent overlaps include Alzheimer’s disease (AD) and alpha-synuclein inclusions. In AD, protein TDP-43 may co-aggregate but it is not clear whether this is an atypical but isolated AD, or an overlap of AD with early frontotemporal lobar degeneration. Comorbidities of AD and tauopathies are relatively rare. In Creutzfeldt-Jakob disease, concomitant AD or Lewy body dementia may occur. A combination of vascular pathology with a primary neurodegeneration (mostly Alzheimer’s disease or Lewy body dementia) is historically called mixed dementia. Overlap of neuropathologically confirmed neurodegenerations may lead to atypical and unusual clinical presentations, illustrated with examples and references to published case reports from our patient cohort.
Key words:
neurodegeneration – Alzheimer’s disease – tauopathy – TDP-43 protein – synucleinopathy – mixed dementia
The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.
The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.
Sources
1. Hyman BT, Phelps CH, Beach TG, Bigio EH, Cairns NJ, Carrillo MC et al. National Institute on Aging‑ Alzheimer‘s Association guidelines for the neuropathologic assessment of Alzheimer‘s disease. Alzheimers Dement 2012; 8(1): 1– 13. doi: 10.1016/ j.jalz.2011.10.007.
2. Whitwell JL, Dickson DW, Murray ME, Weigand SD, Tosakulwong N, Senjem ML et al. Neuroimaging correlates of pathologically defined subtypes of Alzheimer‘s disease: a case‑ control study. Lancet Neurol 2012; 11(10): 868– 877. doi: 10.1016/ S1474‑ 4422(12)70200‑ 4.
3. Murray ME, Graff‑ Radford NR, Ross OA, Petersen RC, Duara R, Dickson DW. Neuropathologically defined subtypes of Alzheimer‘s disease with distinct clinical characteristics: a retrospective study. Lancet Neurol 2011; 10(9): 785– 796. doi: 10.1016/ S1474‑ 4422(11)70156‑ 9.
4. Mensikova K, Kanovsky P, Kaiserova M, Nestrasil I, Bares M. Proměnlivá tvář parkinsonské neurodegenerace. Cesk Slov Neurol N 2013; 76/ 109(1): 26– 34.
5. Ahmed Z, Bigio EH, Budka H, Dickson DW, Ferrer I, Ghetti B et al. Globular glial tauopathies (GGT): consensus recommendations. Acta Neuropathol 2013; 126(4): 537– 544. doi: 10.1007/ s00401‑ 013‑ 1171‑ 0.
6. Crary JF, Trojanowski JQ, Schneider JA, Abisambra JF,Abner EL, Alafuzoff I et al. Primary age‑related tauopathy (PART): a common pathology associated with human aging. Acta Neuropathol 2014; 128(6): 755– 766. doi: 10.1007/ s00401‑ 014‑ 1349‑ 0.
7. Rohan Z, Matej R. Current concepts in the classification and diagnosis of frontotemporal lobar degenerations: a practical approach. Arch Pathol Lab Med 2014; 138(1): 132– 138. doi: 10.5858/ arpa.2012‑ 0510‑ RS.
8. Bigio EH. TDP‑ 43 variants of frontotemporal lobar degeneration. J Mol Neurosci 2011; 45(3): 390– 401. doi: 10.1007/ s12031‑ 011‑ 9545‑ z.
9. Sutovsky S, Kralova M, Kollar B, Siarnik P, Dragasek J, Izakova L et al. Frontotemporálna lobárna degenerácia z pohľadu nových klinicko‑patologických korelácií. Cesk Slov Neurol N 2013; 76/ 109(6): 679– 689.
10. Arnold SJ, Dugger BN, Beach TG. TDP‑ 43 deposition in prospectively followed, cognitively normal elderly individuals: correlation with argyrophilic grains but not other concomitant pathologies. Acta Neuropathol 2013; 126(1): 51– 57. doi: 10.1007/ s00401‑ 013‑ 1110‑ 0.
11. Rohan Z, Parobkova E, Johanidesova S, Koukolik F, Rusina R, Matej R. Lidské prionové nemoci v České republice – 10 let zkušeností s diagnostikou. Cesk Slov Neurol N 2013; 76/ 109(3): 300– 306.
12. Dugger BN, Adler CH, Shill HA, Caviness J, Jacobson S, Driver‑ Dunckley E et al. Concomitant pathologies among a spectrum of parkinsonian disorders. Parkinsonism Relat Disord 2014; 20(5): 525– 529. doi: 10.1016/ j.parkreldis.2014.02.012.
13. Kovacs GG, Milenkovic I, Wohrer A, Hoftberger R, Gelpi E, Haberler C et al. Non‑ Alzheimer neurodegenerative pathologies and their combinations are more frequent than commonly believed in the elderly brain: a community‑based autopsy series. Acta Neuropathol 2013; 126(3): 365– 384. doi: 10.1007/ s00401‑ 013‑ 1157‑ y.
14. Rahimi J, Kovacs GG. Prevalence of mixed pathologies in the aging brain. Alzheimers Res Ther 2014; 6(9): 82. doi: 10.1186/ s13195‑ 014‑ 0082‑ 1.
15. Rusina R, Bourdain F, Matěj R. Atrophie multi‑systématisée et maladie d’Alzheimer: association rare de deux affections neuro‑dégénératives. Ŕ propos d’un cas. Revue Neurologique 2007; 163(12): 1239– 1241.
16. Colom‑ Cadena M, Gelpi E, Charif S, Belbin O, Blesa R, Marti MJ et al. Confluence of alpha‑ synuclein, tau, and beta‑amyloid pathologies in dementia with Lewy bodies. J Neuropathol Exp Neurol 2013; 72(12): 1203– 1212. doi: 10.1097/ NEN.0000000000000018.
17. Guo JL, Covell DJ, Daniels JP, Iba M, Stieber A, Zhang B et al. Distinct alpha‑ synuclein strains differentially promote tau inclusions in neurons. Cell 2013; 154(1): 103– 117. doi: 10.1016/ j.cell.2013.05.057.
18. Frankova V, Matej R, Rusina R. Progredující demence s parkinsonizmem a poruchami chování – od prvních příznaků k neuropatologické diagnóze (kazuistika). Cesk Slov Neurol N 2015; 78(2): 209– 214. doi: 10.14735/ amcsnn2015209.
19. Rusina R, Pazdera L, Kulistak P, Vysata O, Matej R. Pick and Alzheimer diseases: a rare comorbidity presenting as corticobasal syndrome. Cogn Behav Neurol 2013; 26(4): 189– 194. doi: 10.1097/ WNn.0000000000000011.
20. Mensikova K, Matej R, Tuckova L, Rusina R, Ehrmann J, Kanovsky P. Progressive supranuclear palsy phenotype mimicking synucleinopathies. J Neurol Sci 2013; 329(1– 2): 34– 37. doi: 10.1016/ j.jns.2013.03.008.
21. Josephs KA, Whitwell JL, Parisi JE, Knopman DS, Boeve BF, Geda YE et al. Argyrophilic grains: a distinct disease or an additive pathology? Neurobiol Aging 2008; 29(4): 566– 573.
22. Thal DR, Schultz C, Botez G, Del Tredici K, Mrak RE, Griffin WS et al. The impact of argyrophilic grain disease on the development of dementia and its relationship to concurrent Alzheimer‘s disease‑related pathology. Neuropathol Appl Neurobiol 2005; 31(3): 270– 279.
23. Matej R, Koukolik F. Nemoc s argyrofilními zrny: kazuistické sdělení prvních dvou případů diagnostikovaných v ČR a přehled literatury. Ces Slov Patol 2006; 42(2): 66– 70.
24. Josephs KA, Murray ME, Whitwell JL, Parisi JE, Petrucelli L, Jack CR et al. Staging TDP‑ 43 pathology in Alzheimer‘s disease. Acta Neuropathol 2014; 127(3): 441– 450. doi: 10.1007/ s00401‑ 013‑ 1211‑ 9.
25. Josephs KA, Whitwell JL, Weigand SD, Murray ME, Tosakulwong N, Liesinger AM et al. TDP‑ 43 is a key player in the clinical features associated with Alzheimer‘s disease. Acta Neuropathol 2014; 127(6): 811– 824. doi: 10.1007/ s00401‑ 014‑ 1269‑ z.
26. Jung Y, Dickson DW, Murray ME, Whitwell JL, Knopman DS, Boeve BF et al. TDP‑ 43 in Alzheimer‘s disease is not associated with clinical FTLD or Parkinsonism. J Neurol 2014; 261(7): 1344– 1348. doi: 10.1007/ s00415‑ 014‑ 7352‑ 5.
27. Rusina R, Sheardova K, Rektorova I, Ridzon P, Kulistak P, Matej R. Amyotrophic lateral sclerosis and Alzheimer‘s disease – clinical and neuropathological considerations in two cases. Eur J Neurol 2007; 14(7): 815– 818.
28. Kovacs GG, Seguin J, Quadrio I, Hoftberger R, Kapas I, Streichenberger N et al. Genetic Creutzfeldt‑ Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy. Acta Neuropathol 2011; 121(1): 39– 57. doi: 10.1007/ s00401‑ 010‑ 0713‑ y.
29. Vital A, Canron MH, Gil R, Hauw JJ, Vital C. A sporadic case of Creutzfeldt‑ Jakob disease with beta‑amyloid deposits and alpha‑ synuclein inclusions. Neuropathology 2007; 27(3): 273– 277.
30. Rodriguez‑ Diehl R, Rey MJ, Gironell A, Martinez‑ Saez E, Ferrer I, Sanchez‑ Valle R et al. „Preclinical“ MSA in definite Creutzfeldt‑ Jakob disease. Neuropathology 2012; 32(2): 158– 163. doi: 10.1111/ j.1440‑ 1789.2011.01232.x.
31. Castellani RJ, Perry G, Smith MA. Prion disease and Alzheimer‘s disease: pathogenic overlap. Acta Neurobiol Exp (Wars) 2004; 64(1): 11– 17.
32. Alafuzoff I, Gelpi E, Al‑ Sarraj S, Arzberger T, Attems J, Bodi I et al. The need to unify neuropathological assess-ments of vascular alterations in the ageing brain: multicentre survey by the Brainnet Europe consortium. Exp Gerontol 2012; 47(11): 825– 833.
33. Montine TJ, Phelps CH, Beach TG, Bigio EH, Cairns NJ, Dickson DW et al. National Institute on Aging‑ Alzheimer‘s Association guidelines for the neuropathologic assessment of Alzheimer‘s disease: a practical approach. Acta Neuropathol 2012; 123(1): 1– 11. doi: 10.1007/ s00401‑ 011‑ 0910‑ 3.
34. Rusina R, Matěj R et al. Neurodegenarativní onemocnění. Praha: Mladá fronta 2014.
Labels
Paediatric neurology Neurosurgery NeurologyArticle was published in
Czech and Slovak Neurology and Neurosurgery
2015 Issue 6
Most read in this issue
- Orbital Tumors
- European Society of Cardiology Congress
- Familiar Amyloid Polyneuropathy – a Case Report
- Psychometric Properties of the Czech Version of Epworth Sleepiness Scale