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

Yvonne S Davidson, Andrew C Robinson, Julie S Snowden, David Ma Mann

    Research output: Contribution to journalArticlepeer-review

    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.
    Original languageEnglish
    JournalActa Neuropathologica Communications
    Volume1
    Issue number1
    DOIs
    Publication statusPublished - 2013

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