Evidence map›Paper›PMID 38716326›Full record

ArticleNeurology. Genetics2024

Large-Scale Whole-Genome Analysis of HTLV-1-Associated Myelopathy Identified Hereditary Spastic Paraplegias.

Naoki Takao, Naoko Yagishita, Natsumi Araya, Satoko Aratani, Junji Yamauchi, Katsunori Takahashi, Yasuo Kunitomo, Tomoo Sato, Masahiro Nakamori, Yosuke Kawai and 5 more

Abstract read
In one paragraph

Article in Neurology. Genetics, 2024. 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

15 authors.

Naoki TakaoFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.
Naoko YagishitaFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.
Natsumi ArayaFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.
Satoko ArataniFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.
Junji YamauchiFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.
Katsunori TakahashiFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.
Yasuo KunitomoFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.
Tomoo SatoFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.
Masahiro NakamoriFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.ORCID https://orcid.org/0000-0002-0944-5538
Yosuke KawaiFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.
Yosuke OmaeFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.
Katsushi TokunagaFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.
Fumihiko MatsudaFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.
Satomi MitsuhashiFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.ORCID https://orcid.org/0000-0002-5036-6858
Yoshihisa YamanoFrom the Department of Neurology (N.T., J.Y., T.S., S.M., Y.Y.); Department of Rare Diseases Research (N.Y., N.A., S.A., J.Y., K. Takahashi, Y. Kunitomo, T.S., Y.Y.), Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki; Advanced Business Promotion Department (S.A.), Business Development Segment, LSI Medience Corporation, Tokyo; Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences (M.N.); Genome Medical Science Project (Y. Kawai, Y.O., K. Tokunaga), National Center for Global Health and Medicine, Tokyo; and Center for Genomic Medicine (F.M.), Kyoto University Graduate School of Medicine, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Distinguishing human T-cell lymphotropic virus type 1 (HTLV-1)-associated myelopathy from hereditary spastic paraplegia in patients infected with HTLV-1 is challenging due to overlapping clinical symptoms. The aim of this study was to explore the possibility that hereditary spastic paraplegia is inherently present in patients diagnosed with HTLV-1-associated myelopathy. Methods: We performed whole-genome sequencing on 315 unrelated patients registered in the HTLV-1-Associated Myelopathy patient registry "HAM-net," from 2013 to 2022 in Japan. CSF inflammatory biomarkers, including CXCL10, were measured. Results: We identified 5 patients with pathogenic variants in the genes Discussion: Genetic analysis is useful for the differentiation of hereditary spastic paraplegia patients from HTLV-1-associated myelopathy patients, especially for the patients with low levels of CSF inflammatory markers. Here we report the presence of hereditary spinal cord diseases in patients diagnosed with HTLV-1-associated myelopathy and provides evidence that genetic analysis would be helpful in the diagnostic workflow.

Identifiers

PMID38716326
PMCPMC11073877

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