Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias

Bin Jiao¹, Lu Zhou², Yafang Zhou³, Ling Weng¹, Xinxin Liao³, Yun Tian³, Lina Guo², Xixi Liu², Zhenhua Yuan², Xuewen Xiao², Yaling Jiang², Xin Wang², Qijie Yang², Chenping Li², Yuan Zhu², Lin Zhou³, Weiwei Zhang⁴, Junling Wang¹, Yu Li², Wenping Gu², Jie Yang², Jian Xia², Qing Huang², Jun Yin², Jin Xue⁵, Ranhui Duan⁵, Beisha Tang¹, Lu Shen⁶

Affiliations

¹ Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
² Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
³ National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China.
⁴ Department of Radiology, Xiangya Hospital, Central South University, Changsha, China.
⁵ Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
⁶ Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China; Key Laboratory of Organ Injury, Aging and Regenerative Medicine of Hunan Province, Changsha, China. Electronic address: shenlu@csu.edu.cn.

PMID: 32081467
DOI: 10.1016/j.neurobiolaging.2020.01.010

Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias

Bin Jiao et al. Neurobiol Aging. 2020 May.

. 2020 May:89:142.e1-142.e7.

doi: 10.1016/j.neurobiolaging.2020.01.010. Epub 2020 Jan 24.

Authors

Affiliations

¹ Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
² Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
³ National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China.
⁴ Department of Radiology, Xiangya Hospital, Central South University, Changsha, China.
⁵ Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
⁶ Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China; Key Laboratory of Organ Injury, Aging and Regenerative Medicine of Hunan Province, Changsha, China. Electronic address: shenlu@csu.edu.cn.

PMID: 32081467
DOI: 10.1016/j.neurobiolaging.2020.01.010

Abstract

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.

Keywords: Expanded repeats; NOTCH2NLC; Neurodegenerative dementia.

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Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias

Affiliations

Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias

Authors

Affiliations

Abstract

Publication types

MeSH terms

Substances

Supplementary concepts

LinkOut - more resources

Full Text Sources

Medical