Evidence map›Paper›PMID 40644604›Full record

ArticleAging2025

National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan.

Yuko Okawa, Muneaki Matsuo, Rika Kosaki, Hidefumi Tonoki, Masanobu Fujimoto, Keiichi Ozono, Hiroyuki Saitou, Takuo Kubota, Yasuhisa Ohata, Noriyuki Namba and 11 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Aging, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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.

Yuko OkawaDepartment of Pediatrics, Faculty of Medicine, Oita University, Yufu, Oita, Japan.
Muneaki MatsuoDepartment of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
Rika KosakiDivision of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
Hidefumi TonokiMedical Genetics Center, Department of Pediatrics, Tenshi Hospital, Sapporo, Hokkaido, Japan.
Masanobu FujimotoDivision of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan.
Keiichi OzonoDepartment of Pediatrics, The University of Osaka Graduate School of Medicine, Suita, Osaka, Japan.
Hiroyuki SaitouMedical Center for Translational Research Department of Medical Innovation, The University of Osaka Graduate School of Medicine, Suita, Osaka, Japan.
Takuo KubotaDepartment of Pediatrics, The University of Osaka Graduate School of Medicine, Suita, Osaka, Japan.
Yasuhisa OhataDepartment of Pediatrics, The University of Osaka Graduate School of Medicine, Suita, Osaka, Japan.
Noriyuki NambaDivision of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan.
Shinjiro AkaboshiDepartment of Pediatrics, NHO Tottori Medical Center, Tottori, Japan.
Hirofumi KomakiTranslational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Natsuko InagakiDepartment of Clinical Genetics Center, Tokyo Medical University, Tokyo, Japan.
Eiko KatoDepartment of Pediatrics, Tosei General Hospital, Aichi, Japan.
Yoshihiro MaruoDepartment of Pediatrics, Shiga University of Medical Science, Otsu, Shiga, Japan.
Takahiro YonekawaDepartment of Pediatrics, Mie University, Tsu, Mie, Japan.
Tomomi NakamuraDepartment of Pediatrics, Mie University, Tsu, Mie, Japan.
Katsuhiro HayashiDepartment of Orthopaedic Surgery, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Ishikawa, Japan.
Shinji MiwaDepartment of Orthopaedic Surgery, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Ishikawa, Japan.
Miyuki MagotaDepartment of Pediatrics, Yaeyama Hospital, Ishigaki, Okinawa, Japan.
Kenji IharaDepartment of Pediatrics, Faculty of Medicine, Oita University, Yufu, Oita, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

aimHutchinson-Gilford Progeria Syndrome (HGPS) and progeroid laminopathies (PL) are rare genetic disorders characterized by accelerated aging and early onset cardiovascular complications. Despite recent advances in the genetic diagnosis of HGPS and PL and the advent of lonafarnib treatment, the epidemiology and clinical characteristics of these disorders in Asia remain unclear. This study aimed to assess the prevalence, clinical features, and diagnostic trends of the HGPS and PL in Japan.

methodsA nationwide two-step survey was conducted between July 2022 and January 2024, across 1,513 medical facilities.

resultsThe survey identified ten HGPS patients, including eight with a confirmed genetic diagnosis. Early onset features such as scleroderma-like skin changes, growth retardation, and joint contracture were important in facilitating an early and accurate diagnosis. Cardiovascular complications typically occurred during their teens, and abnormalities in lipid metabolism were frequently observed. Overlapping but distinct phenotypes have been noted in

conclusionsThis study provides updated epidemiological and clinical insights into HGPS and related laminopathies in Japan. The introduction of lonafarnib has the potential to extend survival, emphasizing the need to monitor for late-stage complications.

Indexed as

LaminopathiesProgeriaAdolescentAdultChildChild, PreschoolFemaleHumansJapanLamin Type AMaleMiddle AgedPrevalenceYoung AdultLamin Type ALMNA protein, humanHutchinson-Gilford progeria syndromeLMNA geneprocessing-deficient progeroid laminopathiesprogerinZMPSTE24 gene

Identifiers

PMID40644604
PMCPMC12339027

What Socratic holds

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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 Socratic graph.