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. 2013 Aug 12:1:50.
doi: 10.1186/2051-5960-1-50.

Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer's disease

Yvonne S Davidson  1 , Andrew C Robinson, Julie S Snowden, David M A Mann
Affiliations

Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer's disease

Yvonne S Davidson et al. Acta Neuropathol Commun. .

Abstract

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.

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