阿尔茨海默病中 C9ORF72 六核苷酸重复扩增的病理评估。
Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer's disease.
机构信息
Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Foundation NHS Trust, Salford M6 8HD, UK.
出版信息
Acta Neuropathol Commun. 2013 Aug 12;1:50. doi: 10.1186/2051-5960-1-50.
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.
摘要
背景
我们通过 TDP-43 和 p62 免疫组织化学法，在 200 名经病理证实的 AD 患者中寻找 C9ORF72 扩张的组织学证据。
结果
我们注意到这些患者中有 45 名（22.5%）在海马体和颞叶皮层中存在 TDP-43 病理改变，但未发现任何海马体和小脑中 p62 阳性改变的病例，这些改变被认为是 C9ORF72 扩张的特征性改变。
结论
我们的结论是，与 AD 相关的 C9ORF72 扩张是一种罕见的情况，在文献中报道的这些病例中，AD 的存在实际上可能是巧合的，与扩张无关。
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