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免疫性疾病在携带和不携带 C9orf72 重复扩展的芬兰额颞叶变性队列中的流行情况。

Prevalence of immunological diseases in a Finnish frontotemporal lobar degeneration cohort with the C9orf72 repeat expansion carriers and non-carriers.

机构信息

Institute of Clinical Medicine - Neurology, University of Eastern Finland, FI-70211 Kuopio, Finland.

Institute of Clinical Medicine - Neurology, University of Eastern Finland, FI-70211 Kuopio, Finland; Neurocenter, Neurology, Kuopio University Hospital, FI-70029 Kuopio, Finland.

出版信息

J Neuroimmunol. 2018 Aug 15;321:29-35. doi: 10.1016/j.jneuroim.2018.05.011. Epub 2018 May 22.

Abstract

Recent studies have suggested a role for immune dysregulation behind the etiology of frontotemporal lobar degeneration (FTLD). Here, we have investigated the prevalence of immunological diseases in FTLD (N = 196) with and without the C9orf72 repeat expansion, Alzheimer's disease (AD) (N = 193) and not cognitively impaired (NCI) subjects (N = 92). The prevalence was 16.3% in FTLD, 13.5% in AD and 15.2% in NCI. Although differences between the groups did not reach statistical significance, the frequency of immunological diseases was the highest in FTLD without the C9orf72 expansion (22/117, 18.8%) and the lowest in FTLD with the expansion (6/56, 10.7%), suggesting that the C9orf72 expansion possibly influences immunological pathways in FTLD.

摘要

最近的研究表明,免疫失调在额颞叶变性(FTLD)的病因学中起作用。在这里,我们研究了伴有和不伴有 C9orf72 重复扩展的 FTLD(N=196)、阿尔茨海默病(AD)(N=193)和认知正常(NCI)受试者(N=92)中免疫性疾病的患病率。FTLD 的患病率为 16.3%,AD 为 13.5%,NCI 为 15.2%。尽管组间差异没有达到统计学意义,但 C9orf72 扩展组中免疫性疾病的频率最高(117 例中有 22 例,18.8%),扩展组中频率最低(56 例中有 6 例,10.7%),提示 C9orf72 扩展可能影响 FTLD 中的免疫途径。

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