Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O et al (2011) Amyotrophic lateral sclerosis. Lancet 377(9769):942–955
Article CAS PubMed Google Scholar
Kiernan MC, Vucic S, Talbot K, McDermott CJ, Hardiman O, Shefner JM et al (2021) Improving clinical trial outcomes in amyotrophic lateral sclerosis. Nat Rev Neurol 17(2):104–118
Tan RH, Ke YD, Ittner LM, Halliday GM (2017) ALS/FTLD: experimental models and reality. Acta Neuropathol 133(2):177–196
Article CAS PubMed Google Scholar
Braak H, Ludolph AC, Neumann M, Ravits J, Del Tredici K (2017) Pathological TDP-43 changes in Betz cells differ from those in bulbar and spinal alpha-motoneurons in sporadic amyotrophic lateral sclerosis. Acta Neuropathol 133(1):79–90
Article CAS PubMed Google Scholar
Mackenzie IR, Neumann M, Baborie A, Sampathu DM, Du Plessis D, Jaros E et al (2011) A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol 122(1):111–113
Article PubMed PubMed Central Google Scholar
Sampathu DM, Neumann M, Kwong LK, Chou TT, Micsenyi M, Truax A et al (2006) Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. Am J Pathol 169(4):1343–1352
Article CAS PubMed PubMed Central Google Scholar
Lee EB, Porta S, Michael Baer G, Xu Y, Suh E, Kwong LK et al (2017) Expansion of the classification of FTLD-TDP: distinct pathology associated with rapidly progressive frontotemporal degeneration. Acta Neuropathol 134(1):65–78
Article CAS PubMed PubMed Central Google Scholar
Brettschneider J, Arai K, Del Tredici K, Toledo JB, Robinson JL, Lee EB et al (2014) TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord. Acta Neuropathol 128(3):423–437
Article CAS PubMed PubMed Central Google Scholar
Brettschneider J, Del Tredici K, Toledo JB, Robinson JL, Irwin DJ, Grossman M et al (2013) Stages of pTDP-43 pathology in amyotrophic lateral sclerosis. Ann Neurol 74(1):20–38
Article CAS PubMed PubMed Central Google Scholar
Nolan M, Scott C, Gamarallage MP, Lunn D, Carpenter K, McDonough E et al (2020) Quantitative patterns of motor cortex proteinopathy across ALS genotypes. Acta Neuropathol Commun 8(1):98
Article CAS PubMed PubMed Central Google Scholar
Kassubek J, Muller HP, Del Tredici K, Brettschneider J, Pinkhardt EH, Lule D et al (2014) Diffusion tensor imaging analysis of sequential spreading of disease in amyotrophic lateral sclerosis confirms patterns of TDP-43 pathology. Brain J Neurol 137(Pt 6):1733–1740
Tan RH, Yang Y, Kim WS, Dobson-Stone C, Kwok JB, Kiernan MC et al (2017) Distinct TDP-43 inclusion morphologies in frontotemporal lobar degeneration with and without amyotrophic lateral sclerosis. Acta Neuropathol Commun 5(1):76
Article PubMed PubMed Central Google Scholar
Takeuchi R, Tada M, Shiga A, Toyoshima Y, Konno T, Sato T et al (2016) Heterogeneity of cerebral TDP-43 pathology in sporadic amyotrophic lateral sclerosis: evidence for clinico-pathologic subtypes. Acta Neuropathol Commun 4(1):61
Article PubMed PubMed Central Google Scholar
Al-Chalabi A, Hardiman O, Kiernan MC, Chio A, Rix-Brooks B, van den Berg LH (2016) Amyotrophic lateral sclerosis: moving towards a new classification system. Lancet Neurol 15(11):1182–1194
Hardiman O, van den Berg LH, Kiernan MC (2011) Clinical diagnosis and management of amyotrophic lateral sclerosis. Nat Rev Neurol 7(11):639–649
Article CAS PubMed Google Scholar
Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, Neuhaus J et al (2011) Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain: J Neurol 134(Pt 9):2456–2477
Shefner JM, Al-Chalabi A, Baker MR, Cui LY, de Carvalho M, Eisen A et al (2020) A proposal for new diagnostic criteria for ALS. Clin Neurophysiol: Off J Int Fed Clin Neurophysiol 131(8):1975–1978
Strong MJ, Abrahams S, Goldstein LH, Woolley S, McLaughlin P, Snowden J et al (2017) Amyotrophic lateral sclerosis—frontotemporal spectrum disorder (ALS-FTSD): revised diagnostic criteria. Amyotroph Lateral Scler Frontotemporal Degener 18(3–4):153–174
Article PubMed PubMed Central Google Scholar
Hsieh S, Schubert S, Hoon C, Mioshi E, Hodges JR (2013) Validation of the Addenbrooke’s cognitive examination III in frontotemporal dementia and Alzheimer’s disease. Dement Geriatr Cogn Disord 36(3–4):242–250
Brooks BR, Miller RG, Swash M, Munsat TL (2000) El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1(5):293–299
Article CAS PubMed Google Scholar
Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR et al (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72(2):257–268
Article CAS PubMed PubMed Central Google Scholar
Montine TJ, Phelps CH, Beach TG, Bigio EH, Cairns NJ, Dickson DW et al (2012) National institute on aging-Alzheimer’s association guidelines for the neuropathologic assessment of Alzheimer’s disease: a practical approach. Acta Neuropathol 123(1):1–11
Article CAS PubMed Google Scholar
Halliday GM, Holton JL, Revesz T, Dickson DW (2011) Neuropathology underlying clinical variability in patients with synucleinopathies. Acta Neuropathol 122(2):187–204
Brettschneider J, Del Tredici K, Irwin DJ, Grossman M, Robinson JL, Toledo JB et al (2014) Sequential distribution of pTDP-43 pathology in behavioral variant frontotemporal dementia (bvFTD). Acta Neuropathol 127(3):423–439
Article CAS PubMed PubMed Central Google Scholar
Young AL, Vogel JW, Robinson JL, McMillan CT, Ossenkoppele R, Wolk DA, Hansson O (2023) Data-driven neuropathological staging and subtyping of TDP-43 proteinopathies. Brain: J Neurol 146(7):2975–3298
Tan RH, Guennewig B, Dobson-Stone C, Kwok JBJ, Kril JJ, Kiernan MC et al (2019) The under acknowledged PPA-ALS: a unique clinicopathologic subtype with strong heritability. Neurology 92(12):e1354–e1366
Article CAS PubMed Google Scholar
Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I et al (2011) p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol 122(6):691–702
Article CAS PubMed Google Scholar
Tan RH, Kril JJ, Fatima M, McGeachie A, McCann H, Shepherd C, Halliday GM (2015) TDP-43 proteinopathies: pathological identification of brain regions differentiating clinical phenotypes. Brain: J Neurol 138(10):3110–3122
Yang Y, Rowe D, McCann H, Shepherd CE, Kril JJ, Kiernan MC et al (2023) Treatment with the copper compound CuATSM has no significant effect on motor neuronal pathology in patients with ALS. Neuropathol Appl Neurobiol 49(4):e12919
Article CAS PubMed Google Scholar
Mackenzie IR, Neumann M (2020) Subcortical TDP-43 pathology patterns validate cortical FTLD-TDP subtypes and demonstrate unique aspects of C9orf72 mutation cases. Acta Neuropathol 139(1):83–98
Article CAS PubMed Google Scholar
Halliday GM, Kiernan MC, Kril JJ, Mito R, Masuda-Suzukake M, Hasegawa M et al (2016) TDP-43 in the hypoglossal nucleus identifies amyotrophic lateral sclerosis in behavioral variant frontotemporal dementia. J Neurol Sci 366:197–201
Article CAS PubMed Google Scholar
Neumann M, Lee EB, Mackenzie IR (2021) Frontotemporal lobar degeneration TDP-43-immunoreactive pathological subtypes: clinical and mechanistic significance. Adv Exp Med Biol 1281:201–217
Article CAS PubMed PubMed Central Google Scholar
Porta S, Xu Y, Lehr T, Zhang B, Meymand E, Olufemi M et al (2021) Distinct brain-derived TDP-43 strains from FTLD-TDP subtypes induce diverse morphological TDP-43 aggregates and spreading patterns in vitro and in vivo. Neuropathol Appl Neurobiol 47(7):1033–1049
Article CAS PubMed PubMed Central Google Scholar
Mackenzie IR, Neumann M (2017) Reappraisal of TDP-43 pathology in FTLD-U subtypes. Acta Neuropathol 134(1):79–96
Article CAS PubMed Google Scholar
Arseni D, Chen R, Murzin AG, Peak-Chew SY, Garringer HJ, Newell KL, Ryskeldi-Falcon B (2023) TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP. Nature 620:898
Article CAS PubMed PubMed Central Google Scholar
Arseni D, Hasegawa M, Murzin AG, Kametani F, Arai M, Yoshida M
Comments (0)