Evidence map›Paper›PMID 39230471›Full record

ArticleEuropean journal of neurology2024

Nonamyloidogenic TTR gene variants c.76G>A and c.337-18G>C are not associated with idiopathic small-fiber neuropathy.

Céline Konecki, Bruno Francou, Kenneth Chappell, Lucie Augey, Guillemette Beaudonnet, Cécile Cauquil, Dalia Dimitri-Boulos, Adeline Not, Clovis Adam, Vianney Poinsignon and 4 more

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Article in European journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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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. Article
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

14 authors.

Céline KoneckiGénétique Moléculaire Pharmacogénétique et Hormonologie, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin-Bicêtre, France.ORCID 0000-0002-6214-1613
Bruno FrancouGénétique Moléculaire Pharmacogénétique et Hormonologie, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin-Bicêtre, France.
Kenneth ChappellGénétique Moléculaire Pharmacogénétique et Hormonologie, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin-Bicêtre, France.
Lucie AugeyGénétique Moléculaire Pharmacogénétique et Hormonologie, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin-Bicêtre, France.
Guillemette BeaudonnetReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin-Bicêtre, France.
Cécile CauquilReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin-Bicêtre, France.
Dalia Dimitri-BoulosService de Neurologie, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin-Bicêtre, France.
Adeline NotService de Neurologie, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin-Bicêtre, France.
Clovis AdamReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin-Bicêtre, France.
Vianney PoinsignonGénétique Moléculaire Pharmacogénétique et Hormonologie, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin-Bicêtre, France.
Céline VerstuyftGénétique Moléculaire Pharmacogénétique et Hormonologie, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin-Bicêtre, France.
David AdamsReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin-Bicêtre, France.ORCID 0000-0002-8722-4108
Andoni Echaniz-LagunaReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin-Bicêtre, France.ORCID 0000-0003-1012-9783
Céline LabeyrieReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin-Bicêtre, France.ORCID 0000-0001-9765-709X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

background and purposeSmall-fiber neuropathy (SFN) affects only unmyelinated and thin myelinated fibers. It may be caused by amyloidogenic mutations of the transthyretin (TTR) gene, but not all TTR gene variants are pathogenic. The nonamyloidogenic c.76G>A (rs1800458) and c.337-18G>C (rs36204272) variants of TTR were recently reported to be associated with SFN. We investigated this putative association by analyzing TTR gene sequencing data retrospectively for two cohorts of patients, one with SFN and a control group.

methodsIn this retrospective single-center study, we analyzed the frequency of the c.76G>A and c.337-18G>C TTR gene variants in a cohort of patients meeting a strict definition of SFN, with or without dysautonomia, a control cohort of patients investigated for nonneurological conditions, and the gnomAD international database.

resultsWe included 55 SFN patients in this study, 17 of whom had dysautonomia. The allelic frequencies of the two variants in our cohort of 55 SFN patients were 7.27% for c.76G>A TTR and 5.25% for c.337-18G>C. The frequencies of both variants were statistically similar in the 337 control patients and the gnomAD database.

conclusionsThe c.76G>A and c.337-18G>C TTR gene variants are not associated with SFN.

Indexed as

PrealbuminSmall Fiber NeuropathyAdultAgedFemaleGene FrequencyHumansMaleMiddle AgedRetrospective StudiesPrealbuminTTR protein, humanamyloidosissmall‐fiber neuropathyTTRvariants

Identifiers

PMID39230471
PMCPMC11555007

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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.