Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins

• Published in: Neuropathology and applied neurobiology Vol. 42; no. 3; pp. 242 - 254
• Main Authors: Davidson, Y., Robinson, A. C., Liu, X., Wu, D., Troakes, C., Rollinson, S., Masuda-Suzukake, M., Suzuki, G., Nonaka, T., Shi, J., Tian, J., Hamdalla, H., Ealing, J., Richardson, A., Jones, M., Pickering-Brown, S., Snowden, J. S., Hasegawa, M., Mann, D. M. A.
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01.04.2016; Wiley Subscription Services, Inc; John Wiley and Sons Inc
• Subjects: Aged; C9orf72; C9orf72 Protein; dipeptide repeat proteins; Dipeptides; DNA Repeat Expansion; DNA-Binding Proteins - metabolism; Female; frontotemporal lobar degeneration; Frontotemporal Lobar Degeneration - genetics; Frontotemporal Lobar Degeneration - pathology; Humans; Immunohistochemistry; Inclusion Bodies - metabolism; Inclusion Bodies - pathology; Male; Middle Aged; Motor Neuron Disease - genetics; Motor Neuron Disease - pathology; motor neurone disease; Nerve Degeneration - genetics; Nerve Degeneration - pathology; Neurons - pathology; Original; Pathology; Proteins; Proteins - genetics; Spinal cord; TDP-43; dipeptide repeat proteins; TDP-43; motor neurone disease; frontotemporal lobar degeneration; C9orf72

Aims A hexanucleotide expansion in C9orf72 is the major genetic cause of inherited behavioural variant Frontotemporal dementia (bvFTD) and motor neurone disease (MND), although the pathological mechanism(s) underlying disease remains uncertain. Methods Using antibodies to poly‐GA, poly‐GP, poly‐GR,...