Evidence map›Paper›PMID 40898332›Full record

ArticleOrphanet journal of rare diseases2025

Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center.

Toshiya Nomura, Yohei Misumi, Masayoshi Tasaki, Shiori Yamakawa, Tomoaki Taguchi, Konen Obayashi, Taro Yamashita, Yukio Ando, Mitsuharu Ueda

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In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

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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

4 citing papers in PubMed.

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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

9 authors.

Toshiya NomuraDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan. caramelbox0106@gmail.com.ORCID http://orcid.org/0000-0001-9657-5324
Yohei MisumiDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.
Masayoshi TasakiDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.
Shiori YamakawaDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.
Tomoaki TaguchiDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.
Konen ObayashiDepartment of Morphological and Physiological Sciences, Graduate School of Health Sciences, Kumamoto University, Kumamoto, Japan.
Taro YamashitaDepartment of Neurology, Soyo Hospital, Kumamoto, Japan.
Yukio AndoDepartment of Amyloidosis Research, Nagasaki International University, Nagasaki, Japan.
Mitsuharu UedaDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.

Funding

Alnylam Pharmaceuticals Alnylam Pharmaceuticals
6 · The paper itself

Abstract

backgroundHereditary transthyretin (ATTRv) amyloidosis is a rare, intractable genetic disorder caused by mutations in the transthyretin (TTR) gene. More than 150 TTR mutations have been identified, along with genotype-phenotype correlations. Early diagnosis is critical to facilitate the timely initiation of disease-modifying therapies.

objectiveTo characterize the genetic and clinical features of ATTRv amyloidosis at our referral center.

methodsA total of 6,201 TTR genetic tests were conducted at Kumamoto University Hospital over a ten-year period and revealed 289 mutations, including 235 symptomatic cases, which were analyzed in this study.

resultsIn a cohort of 235 patients with symptomatic ATTRv amyloidosis, 46 TTR mutations were identified. The genotypes were distributed as follows: V30M in endemic areas (7.7%), V30M in non-endemic areas (48.5%), and non-V30M mutations (43.8%). The mean age of onset was lowest for patients with V30M in endemic areas (42.4 ± 15.6 years) and higher for those with non-V30M mutations (60.6 ± 14.6 years) and V30M in non-endemic areas (64.5 ± 11.9 years). Family history was present in 93.3% of V30M cases in endemic areas but absent in 42.0% of V30M cases in non-endemic areas and 57.5% of non-V30M cases. Polyneuropathy was the predominant initial symptom, affecting 73.7% of endemic V30M cases, 54.3% of non-endemic V30M cases, and 34.6% of non-V30M cases. Diagnosis occurred earlier in patients with V30M in endemic areas than in other groups. Notably, delayed diagnosis has been observed in patients presenting with carpal tunnel syndrome or polyneuropathy.

conclusionsThese findings demonstrate that patients with V30M in non-endemic areas and those with non-V30M mutations are more prevalent than previously recognized and that their genetic and clinical characteristics exhibit considerable diversity.

Indexed as

Amyloid Neuropathies, FamilialPrealbuminAdultAgedAged, 80 and overEast Asian PeopleFemaleGenotypeHumansJapanMaleMiddle AgedMutationPrealbuminAmyloidEndemic areasHereditary transthyretin amyloidosisNon-endemic areasTransthyretin

Identifiers

PMID40898332
PMCPMC12406441

What Socratic holds

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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.