{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T00:58:10Z","timestamp":1791248290757,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,12,7]],"date-time":"2015-12-07T00:00:00Z","timestamp":1449446400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002283","name":"Alzheimer\u2019s Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002283","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000320","name":"Alzheimer's Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000320","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["089701\/Z\/09\/Z"],"award-info":[{"award-number":["089701\/Z\/09\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology Appl Neurobio"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p>A hexanucleotide expansion in <jats:italic>C9orf72<\/jats:italic> 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using antibodies to poly\u2010GA, poly\u2010GP, poly\u2010GR, poly\u2010AP and poly\u2010PR proteins, we examined sections of cerebral cortex, hippocampus, thalamus, cerebellum and spinal cord, from 20 patients with bvFTD and\/or MND bearing an expansion in <jats:italic>C9orf72<\/jats:italic> for aggregated deposits of dipeptide repeat proteins (DPR).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Antibodies to poly\u2010GA, poly\u2010GP and poly\u2010GR detected numerous rounded cytoplasmic inclusions (NCI) within granule cells of hippocampal dentate gyrus and those of the cerebellum, as well as \u2018star\u2010burst\u2019 shaped NCI in pyramidal neurones of CA3\/4 region of hippocampus. NCI were uncommon in Purkinje cells, and only very rarely seen in anterior horn cells. Poly\u2010PA antibody detected occasional NCI within CA3\/4 neurones alone, whereas poly\u2010PR antibody did not identify any NCI but immunostained the nucleus of anterior horn cells, CA3\/4 neurones and Purkinje cells, in patients with or without expansion in <jats:italic>C9orf72<\/jats:italic>, as well as in normal controls. Poly\u2010GA antibody generally detected more DPR than poly\u2010GP, which in turn was greater than poly\u2010GR. All patients with bvFTD + MND or MND showed plentiful p62\/TDP\u201043 positive inclusions in remaining anterior horn cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Degeneration and loss of anterior horn cells associated with expansions in <jats:italic>C9orf72<\/jats:italic> occurs in the absence of DPR, and implies that changes involving loss of nuclear staining for and a cytoplasmic aggregation of TDP\u201043 are more likely to be the cause of this.<\/jats:p><\/jats:sec>","DOI":"10.1111\/nan.12292","type":"journal-article","created":{"date-parts":[[2015,11,5]],"date-time":"2015-11-05T08:04:26Z","timestamp":1446710666000},"page":"242-254","source":"Crossref","is-referenced-by-count":73,"title":["Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in <i>C9orf72<\/i> is linked to TDP\u201043 pathology and not associated with aggregated forms of dipeptide repeat proteins"],"prefix":"10.1111","volume":"42","author":[{"given":"Y.","family":"Davidson","sequence":"first","affiliation":[{"name":"Clinical and Cognitive Sciences Research Group Institute of Brain, Behaviour and Mental Health Faculty of Medical and Human Sciences University of Manchester Salford Royal Hospital Salford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. 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