Evidence map›Paper›PMID 31178126›Full record

ArticleAmerican journal of human genetics2019

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.

Yun Tian, Jun-Ling Wang, Wen Huang, Sheng Zeng, Bin Jiao, Zhen Liu, Zhao Chen, Yujing Li, Ying Wang, Hao-Xuan Min and 27 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 188 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
188citing papers in PubMed, 3 pooled it
18.2field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

188 citing papers in PubMed, 3 syntheses or guidelines pooled it, 316 citations in OpenAlex.

  1. Neuronal intranuclear inclusion disease with stroke-mimicking onset: a case report and systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Pooled it
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  4. Structural Polymorphism of polyG Inclusions Revealed by In Situ Cryo-Electron Tomography.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026
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128 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

37 authors at 7 institutions in 2 countries.

Yun TianDepartment of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Jun-Ling WangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Wen HuangCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410008, China.
Sheng ZengDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Bin JiaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Zhen LiuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Zhao ChenDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Yujing LiDepartment of Human Genetics, Emory University School of Medicine, Whitehead Research Building, Room 305A, 615 Michael Street, Atlanta, GA 30322, USA.
Ying WangDepartment of Pathology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Hao-Xuan MinGrandOmics Biosciences, Beijing 100000, China.
Xue-Jing WangDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Yong YouDepartment of Neurology, The First Affiliated Hospital of University of South China, Hengyang, Hunan 421000, China.
Ru-Xu ZhangDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Xiao-Yu ChenDepartment of Neurosurgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Fang YiDepartment of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Ya-Fang ZhouDepartment of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Hong-Yu LongDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Chao-Jun ZhouDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Xuan HouDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Jun-Pu WangDepartment of Pathology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Bin XieDepartment of Pathology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Fan LiangGrandOmics Biosciences, Beijing 100000, China.
Zhuan-Yi YangDepartment of Neurosurgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Qi-Ying SunDepartment of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Emily G AllenDepartment of Human Genetics, Emory University School of Medicine, Whitehead Research Building, Room 305A, 615 Michael Street, Atlanta, GA 30322, USA.
Andrew Mark ShafikDepartment of Human Genetics, Emory University School of Medicine, Whitehead Research Building, Room 305A, 615 Michael Street, Atlanta, GA 30322, USA.
Ha Eun KongDepartment of Human Genetics, Emory University School of Medicine, Whitehead Research Building, Room 305A, 615 Michael Street, Atlanta, GA 30322, USA.
Ji-Feng GuoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Xin-Xiang YanDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Zheng-Mao HuCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410008, China; Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410008, China.
Kun XiaCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410008, China; Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410008, China.
Hong JiangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan 410008, China.
Hong-Wei XuDepartment of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Ran-Hui DuanCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410008, China; Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410008, China.
Peng JinDepartment of Human Genetics, Emory University School of Medicine, Whitehead Research Building, Room 305A, 615 Michael Street, Atlanta, GA 30322, USA. Electronic address: peng.jin@emory.edu.
Bei-Sha TangDepartment of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Lu ShenDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China. Electronic address: shenlu@csu.edu.cn.
Central South University · CNXiangya Hospital Central South University · CNEmory University · USBioscience (China) · CNFirst Affiliated Hospital of Zhengzhou University · CNGrandomics (China) · CNUniversity of South China · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative disease characterized by eosinophilic intranuclear inclusions in the nervous system and multiple visceral organs. The clinical manifestation of NIID varies widely, and both familial and sporadic cases have been reported. Here we have performed genetic linkage analysis and mapped the disease locus to 1p13.3-q23.1; however, whole-exome sequencing revealed no potential disease-causing mutations. We then performed long-read genome sequencing and identified a large GGC repeat expansion within human-specific NOTCH2NLC. Expanded GGC repeats as the cause of NIID was further confirmed in an additional three NIID-affected families as well as five sporadic NIID-affected case subjects. Moreover, given the clinical heterogeneity of NIID, we examined the size of the GGC repeat among 456 families with a variety of neurological conditions with the known pathogenic genes excluded. Surprisingly, GGC repeat expansion was observed in two Alzheimer disease (AD)-affected families and three parkinsonism-affected families, implicating that the GGC repeat expansions in NOTCH2NLC could also contribute to the pathogenesis of both AD and PD. Therefore, we suggest defining a term NIID-related disorders (NIIDRD), which will include NIID and other related neurodegenerative diseases caused by the expanded GGC repeat within human-specific NOTCH2NLC.

Indexed as

AdultAgedExome SequencingFemaleHumansIntranuclear Inclusion BodiesMaleMiddle AgedNeurodegenerative DiseasesPedigreeReceptors, NotchTrinucleotide Repeat ExpansionReceptors, NotchGGC repeat expansionslinkage analysislong-read genome sequencingneuronal intranuclear inclusion diseaseNOTCH2NLCwhole-exome sequencing

Identifiers

PMID31178126
PMCPMC6612530
OpenAlexW2948429012

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.