当前位置：
X-MOL 学术
›
Neurobiol. Aging
›
论文详情
Our official English website, www.x-mol.net, welcomes your
feedback! (Note: you will need to create a separate account there.)
Identification of Expanded Repeats in NOTCH2NLC in Neurodegenerative Dementias
Neurobiology of Aging ( IF 3.7 ) Pub Date : 2020-05-01 , DOI: 10.1016/j.neurobiolaging.2020.01.010 Bin Jiao 1 , Lu Zhou 2 , Yafang Zhou 3 , Ling Weng 1 , Xinxin Liao 3 , Yun Tian 3 , Lina Guo 2 , Xixi Liu 2 , Zhenhua Yuan 2 , Xuewen Xiao 2 , Yaling Jiang 2 , Xin Wang 2 , Qijie Yang 2 , Chenping Li 2 , Yuan Zhu 2 , Lin Zhou 3 , Weiwei Zhang 4 , Junling Wang 1 , Yu Li 2 , Wenping Gu 2 , Jie Yang 2 , Jian Xia 2 , Qing Huang 2 , Jun Yin 2 , Jin Xue 5 , Ranhui Duan 5 , Beisha Tang 1 , Lu Shen 6
Neurobiology of Aging ( IF 3.7 ) Pub Date : 2020-05-01 , DOI: 10.1016/j.neurobiolaging.2020.01.010 Bin Jiao 1 , Lu Zhou 2 , Yafang Zhou 3 , Ling Weng 1 , Xinxin Liao 3 , Yun Tian 3 , Lina Guo 2 , Xixi Liu 2 , Zhenhua Yuan 2 , Xuewen Xiao 2 , Yaling Jiang 2 , Xin Wang 2 , Qijie Yang 2 , Chenping Li 2 , Yuan Zhu 2 , Lin Zhou 3 , Weiwei Zhang 4 , Junling Wang 1 , Yu Li 2 , Wenping Gu 2 , Jie Yang 2 , Jian Xia 2 , Qing Huang 2 , Jun Yin 2 , Jin Xue 5 , Ranhui Duan 5 , Beisha Tang 1 , Lu Shen 6
Affiliation
Recently, the (GGC)n repeat expansion in the NOTCH2NLC gene has been identified to be associated with neuronal intranuclear inclusion disease (NIID). Given the clinical overlap of dementia-dominant NIID with neurodegenerative dementia, we therefore hypothesized that the NOTCH2NLC repeat expansion might also contribute to these diseases. In the present study, repeat primed polymerase chain reaction (RP-PCR) and GC-rich PCR were conducted to detect the repeats of NOTCH2NLC in a cohort of 1004 patients with neurodegenerative dementias from mainland China. As a result, 4 sporadic patients were found to carry the NOTCH2NLC repeats expansion, totally accounting for 0.4% of all dementia individuals, and the accurate repeated sizes were 110, 133,120 and 76 respectively. Of 4 mutation carriers, three and one were clinically diagnosed Alzheimer's disease (AD) and frontotemporal dementia (FTD) respectively. In addition, 3 out of them revealed leukoencephalopathy in T2-Flair imaging. This study revealed that although rare, the NOTCH2NLC repeat expansions may be associated with AD or FTD-like phenotype as well as leukoencephalopathy.
更新日期：2020-05-01
京公网安备 11010802027423号