Evidence map›Paper›PMID 41645024›Full record

ArticleAnnals of clinical and translational neurology2026

TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia.

Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano and 9 more

Abstract readCase Reports
In one paragraph

Article in Annals of clinical and translational neurology, 2026. 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

19 authors.

Tomoyasu MatsubaraDepartment of Neurology, Tokushima University Hospital, Tokushima, Japan.ORCID 0000-0002-7559-8284
Naoki KiharaDepartment of Neurology, Tokushima University Hospital, Tokushima, Japan.
Satoko MiyatakeDepartment of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.ORCID 0000-0001-7587-5168
Koji FujitaDepartment of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.ORCID 0000-0003-4789-1579
Konoka TachibanaDepartment of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.ORCID 0009-0000-4545-563X
Ryosuke MiyamotoDepartment of Neurology, Tokushima University Hospital, Tokushima, Japan.ORCID 0000-0001-6434-9541
Hiroki YamazakiDepartment of Neurology, Tokushima University Hospital, Tokushima, Japan.ORCID 0009-0006-1617-8956
Yusuke OsakiDepartment of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.ORCID 0000-0001-6588-5442
Nazere KeyoumuDepartment of Medical Genetics, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.ORCID 0009-0000-4318-6237
Yuki KuwanoDepartment of Medical Genetics, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.ORCID 0009-0008-5473-5068
Nobutoshi MorimotoDepartment of Neurology, Kagawa Prefectural Central Hospital, Takamatsu, Japan.
Suzuran SaitoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Eriko KoshimizuDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.ORCID 0000-0001-9947-3315
Yoichi OtomiDepartment of Radiology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.ORCID 0000-0002-8960-3662
Kenji IshibashiDiagnostic Neuroimaging Research, Research Team for Neuroimaging, Tokyo Metropolitan Institute for Geriatrics and Gerontology, Tokyo, Japan.ORCID 0000-0002-4590-7146
Masafumi HaradaDepartment of Radiology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.ORCID 0000-0003-0958-1094
Naomichi MatsumotoDepartment of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.ORCID 0000-0001-9846-6500
Hiroyuki MorinoDepartment of Medical Genetics, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.ORCID 0000-0002-5190-3547
Yuishin IzumiDepartment of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.ORCID 0000-0002-3048-9041

Funding

Japan Agency for Medical Research and Development JP23re0122001Japan Agency for Medical Research and Development JP25dk0207066Japan Agency for Medical Research and Development JP25ek0109617Japan Agency for Medical Research and Development JP25ek0109648Japan Agency for Medical Research and Development JP25ek0109674Japan Agency for Medical Research and Development JP25ek0109677Japan Agency for Medical Research and Development JP25ek0109760Japan Society for the Promotion of Science JP23K27520Japan Society for the Promotion of Science JP24K02230Japan Society for the Promotion of Science JP25K19028MHLW Research on rare and intractable diseases Program JPMH23FC1008Naito FoundationTakeda Science Foundation
6 · The paper itself

Abstract

We report a 58-year-old woman with a novel splice-site variant in the TANK-binding kinase 1 (TBK1:c.993-2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and prosopagnosia represented the earliest manifestation of rtvFTD. Molecular analysis revealed reduced levels of correctly spliced TBK1 transcripts, consistent with haploinsufficiency. Given the shared involvement of TDP-43 pathology in both PLS and rtvFTD, this case indicates TBK1 dysfunction as a fundamental genetic factor underlying the coexistence of these phenotypes, underscoring the clinical value of early neuroimaging and genetic evaluation.

Indexed as

Frontotemporal DementiaMotor Neuron DiseaseProtein Serine-Threonine KinasesFemaleHumansMiddle AgedProtein Serine-Threonine KinasesTBK1 protein, humanfrontotemporal dementiamotor neuron diseaseprimary lateral sclerosisTBK1TDP‐43

Identifiers

PMID41645024
PMCPMC13161887

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Registered trials

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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.