Department of Neurology, Huashan Hospital, Shanghai, China; Department of Critinal Care Medicine, Huashan Hospital, Shanghai, China.
Department of Neurology, Huashan Hospital, Shanghai, China.
Neurobiol Aging. 2020 Feb;86:201.e1-201.e7. doi: 10.1016/j.neurobiolaging.2019.01.009. Epub 2019 Jan 24.
Variants in triggering receptor expressed on myeloid cells 2 (TREM2) are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease. TREM2 homozygous mutations cause Nasu-Hakola disease, an early-onset recessive form of dementia preceded by bone cysts and fractures. The same type of mutations has been shown to cause frontotemporal dementia without the presence of any bone phenotype. Herein, we report a Chinese Han consanguineous family carrying a novel TREM2 mutation, presenting with early-onset dementia similar to behavioral variant frontotemporal dementia with mild radiological bone involvement. Minigene reporter assay showed the variant disturbed splicing by preservation of intron 2 in transcription. In our investigation, the clinical and genetic spectra of Chinese early-onset dementia patients were expanded; TREM2 mutations should be screened in familial and Chinese early-onset dementia patients.
TREM2 基因突变与行为变异型额颞叶痴呆和阿尔茨海默病均相关。TREM2 纯合突变导致 Nasu-Hakola 病，这是一种早发性常染色体隐性痴呆，伴有骨囊肿和骨折。同样类型的突变也可导致没有任何骨表型的额颞叶痴呆。在此，我们报告了一个携带新型 TREM2 突变的中国汉族近亲家族，表现为类似于行为变异型额颞叶痴呆的早发性痴呆，伴有轻度影像学骨受累。小基因报告基因检测显示该突变通过保留转录中内含子 2 来干扰剪接。在我们的研究中，扩展了中国早发性痴呆患者的临床和遗传谱；应在家族性和中国早发性痴呆患者中筛查 TREM2 突变。
