Subcortical TDP-43 pathology patterns validate cortical FTLD-TDP subtypes and demonstrate unique aspects of C9orf72 mutation cases

Author:

Mackenzie Ian R.ORCID,Neumann Manuela

Funder

Canadian Institutes of Health Research

Helmholtz-Gemeinschaft

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Reference49 articles.

1. Alafuzoff I, Pikkarainen M, Neumann M, Arzberger T, Al-Sarraj S, Bodi I et al (2015) Neuropathological assessments of the pathology in frontotemporal lobar degeneration with TDP43-positive inclusions: an inter-laboratory study by the BrainNet Europe consortium. J Neural Transm 122:957–972. https://doi.org/10.1007/s00702-014-1304-1

2. Armstrong RA, Ellis W, Hamilton RL, Mackenzie IR, Hedreen J, Gearing M et al (2010) Neuropathological heterogeneity in frontotemporal lobar degeneration with TDP-43 proteinopathy: a quantitative study of 94 cases using principal components analysis. J Neural Transm 117:227–239. https://doi.org/10.1007/s00702-009-0350-6

3. Bigio EH, Weintraub S, Rademakers R, Baker M, Ahmadian SS, Rademaker A et al (2013) Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation. Neuropathology 33:122–133. https://doi.org/10.1111/j.1440-1789.2012.01332.x

4. Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O et al (2012) Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 135:765–783. https://doi.org/10.1093/brain/aws004

5. Brandmeir NJ, Geser F, Kwong LK, Zimmerman E, Qian J, Lee VM et al (2008) Severe subcortical TDP-43 pathology in sporadic frontotemporal lobar degeneration with motor neuron disease. Acta Neuropathol 115:123–131. https://doi.org/10.1007/s00401-007-0315-5

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