Background: We have sought histological evidence, using TDP-43 and p62 immunohistochemistry, for the presence of expansions in C9ORF72 among 200 patients with pathologically confirmed AD. Results: We noted TDP-43 pathological changes in hippocampus and temporal cortex in 45 (22.5%) of these patients, but did not detect any cases where p62 positive changes in hippocampus and cerebellum, considered pathognomic for C9ORF72 expansions, were present. Conclusion: We conclude that expansions in C9ORF72 associated with AD are a rare occurrence, and in those instances in the literature where these have been reported, the presence of AD may in fact be coincidental and unrelated to the expansion.
CITATION STYLE
Davidson, Y. S., Robinson, A. C., Snowden, J. S., & Mann, D. M. A. (2014). Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer’s disease. Acta Neuropathologica Communications, 2(1). https://doi.org/10.1186/2051-5960-1-50
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