Evidence map›Paper›PMID 41762523›Full record

ArticleEBioMedicine2026

Short tandem repeat expansions in patients with neurodegenerative dementia.

Yuan Zhu, Xuewen Xiao, Yiliang Liu, Zheng Wang, Tengfei Luo, Tianyan Xu, Qijie Yang, Xiaoli Hao, Cong Zhang, Sizhe Zhang and 10 more

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Article in EBioMedicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

20 authors.

Yuan ZhuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Xuewen XiaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Yiliang LiuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Zheng WangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China.
Tengfei LuoNational Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China.
Tianyan XuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Qijie YangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Xiaoli HaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Cong ZhangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Sizhe ZhangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Shilin LuoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China.
Yafang ZhouEngineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Xinxin LiaoEngineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Yun TianEngineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Ling WengDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Liangjuan FangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Beisha TangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Bin JiaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Jinchen LiDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Bioinformatics Center, Furong Laboratory and Xiangya Hospital, Central South University, Changsha, China. Electronic address: lijinchen@csu.edu.cn.
Lu ShenDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China; Bioinformatics Center, Furong Laboratory and Xiangya Hospital, Central South University, Changsha, China; FuRong Laboratory, Changsha, Hunan, China. Electronic address: shenlu@csu.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDue to the overlapping clinical features of neurodegenerative dementia (NDD)-including Alzheimer's disease (AD), frontotemporal dementia (FTD), dementia with Lewy bodies (DLB), and progressive supranuclear palsy (PSP), accurate diagnosis remains challenging in early stages. Multiple dementias can be caused by short tandem repeat (STR) expansions. However, systematic investigation of known pathogenic STRs in large dementia cohorts remains lacking.

methodsWe used ExpansionHunter (EH) to assess 22 neurodegenerative disease-associated STRs in whole-genome sequencing (WGS) data from 950 patients with AD, 222 patients with FTD, 165 patients with DLB, 231 patients with PSP, and 1522 cognitively normal controls. Repeat primed-polymerase chain reaction (RP-PCR) was performed to validate EH calls that exceeded the intermediate thresholds of STR. We also attempted to use ExpansionHunter Denovo (EHDn) to detect C9orf72 expansions missed by EH.

findingsEHDn improved the detection rate of C9orf72 expansions. After sample quality control, 33 PCR-validated pathogenic expansions were identified in nine genes (C9orf72, ATXN8OS, NOTCH2NLC, HTT, FMR1, DMPK, AR, CACNA1A, and PPP2R2B) among 1559 patients with NDD, accounting for 2.12% of cases. Burden-based logistic regression analyses demonstrated that the presence of pathogenic STR expansions was significantly associated with NDD status (OR = 3.57, p = 4.70 × 10

interpretationOur findings provide evidence for the clinical pleiotropy of STRs in NDD and their involvement in NDD pathogenesis.

fundingThis study was supported by the National Natural Science Foundation of China(U22A20300, 82502244, 823714434, 82071216), the National Key R&D Program of China(2023YFC3603700), STI2030-Major Projects(2021ZD0201803), Outstanding Youth Fund of Hunan Provincial Natural Science Foundation(2024JJ2097), Youth Fund of Hunan Provincial Natural Science Foundation(2025JJ60696), Hunan Health Commission Grant(20232460), Postdoctoral Fellowship Program of CPSF(GZC20233185), China Postdoctoral Science Foundation (2025M772318), and the Scientific Research Program of FuRong Laboratory (2024PT5108).

Indexed as

DementiaDNA Repeat ExpansionMicrosatellite RepeatsNeurodegenerative DiseasesAgedC9orf72 ProteinFemaleGenetic Predisposition to DiseaseHumansMaleWhole Genome SequencingC9orf72 ProteinC9orf72 protein, humanC9orf72 expansionNeurodegenerative dementiaShort tandem repeat (STR)TBP repeatWhole-genome sequencing (WGS)

Identifiers

PMID41762523
PMCPMC12962126

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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.