Evidence map›Paper›PMID 42802826›Full record

ArticleAlzheimer's & dementia (Amsterdam, Netherlands)

Screening GGC repeat expansion in the

Seung-Yeon Lee, Takeshi Mizuguchi, Hee Jin Kim, Young-Eun Kim, Cho Hanna, Won-Joo Kim, Gha-Hyun Lee, Ahro Kim, Ji-Yun Park, Eun Joo Chung and 11 more

Abstract read
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In one paragraph

Article in Alzheimer's & dementia (Amsterdam, Netherlands). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

21 authors.

Seung-Yeon Lee *Department of Health Sciences and Technology, SAIHST Sungkyunkwan University Seoul Republic of Korea.ORCID https://orcid.org/0009-0008-2462-0032
Takeshi Mizuguchi *Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan.
Hee Jin Kim *Department of Health Sciences and Technology, SAIHST Sungkyunkwan University Seoul Republic of Korea.
Young-Eun KimDepartment of Laboratory Medicine Hanyang University College of Medicine Seoul Republic of Korea.
Cho HannaDepartment of Neurology, Gangnam Severance Hospital Yonsei University College of Medicine Seoul Republic of Korea.
Won-Joo KimDepartment of Neurology, Gangnam Severance Hospital Yonsei University College of Medicine Seoul Republic of Korea.
Gha-Hyun LeeDepartment of Neurology Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute Busan Republic of Korea.
Ahro KimDepartment of Neurology Ulsan University Hospital, University of Ulsan College of Medicine Ulsan Republic of Korea.
Ji-Yun ParkDepartment of Neurology Ulsan University Hospital, University of Ulsan College of Medicine Ulsan Republic of Korea.
Eun Joo ChungDepartment of Neurology, Busan Paik Hospital Inje University College of Medicine Busan Republic of Korea.
Hyemin JangDepartment of Neurology Asan Medical Center, University of Ulsan College of Medicine Seoul Republic of Korea.
Na-Yeon JungDepartment of Neurology Pusan National University Yangsan Hospital, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University School of Medicine Yangsan Republic of Korea.
Sun Min LeeDepartment of Neurology National Medical Center Seoul Republic of Korea.
Sang Won SeoDepartment of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Republic of Korea.
Seong-Ho KohDepartment of Neurology Hanyang University Guri Hospital Guri Republic of Korea.
Henrik ZetterbergDepartment of Psychiatry and Neurochemistry Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg Mölndal Sweden.
Liana G ApostolovaDepartment of Neurology Indiana University School of Medicine Indianapolis Indiana USA.
Naomichi MatsumotoDepartment of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan.
So Young MoonDepartment of Neurology Ajou University School of Medicine Suwon Republic of Korea.ORCID https://orcid.org/0000-0002-1025-1968
Eun-Joo KimDepartment of Neurology Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute Busan Republic of Korea.
LEAF investigators

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNeuronal intranuclear inclusion disease (NIID) is neurodegenerative disorder caused by GGC repeat expansion in

methodsWe screened

resultsGGC repeat expansions were not identified in early-onset Alzheimer's disease (AD) or frontotemporal dementia (FTD), while four of eleven patients with adult-onset leukodystrophy (36.3%) had abnormal expansions. Plasma neurofilament light chain (NfL) level was lower in NIID than in colony-stimulating factor 1 receptor-related disorder. DISCUSSION: These findings support recent arguments that the concept of

Indexed as

early‐onset dementialeukodystrophyneuronal intranuclear inclusion diseaseNOTCH2NLC GGC repeat expansionNOTCH2NLC‐related GGC repeat expansion disorder

Identifiers

PMID42802826
PMCPMC13616204

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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.