Evidence mapPaperPMID 39668650Full record

ArticleMuscle & nerve2025

Electrophysiological Monitoring of Asymptomatic Transthyretin Mutation Carriers.

Nicolas Berard, Annie Verschueren, Etienne Fortanier, Aude-Marie Grapperon, Ludivine Kouton, Hadia Rebouh, Julien Gallard, Emmanuelle Salort-Campana, Shahram Attarian, Emilien Delmont

Abstract read
In one paragraph

Article in Muscle & nerve, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Trial
  2. 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

10 authors.

Nicolas BerardReferral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, ERN Neuro-NMD, Marseille, France.
Annie VerschuerenReferral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, ERN Neuro-NMD, Marseille, France.
Etienne FortanierReferral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, ERN Neuro-NMD, Marseille, France.
Aude-Marie GrapperonReferral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, ERN Neuro-NMD, Marseille, France.
Ludivine KoutonReferral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, ERN Neuro-NMD, Marseille, France.
Hadia RebouhReferral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, ERN Neuro-NMD, Marseille, France.
Julien GallardReferral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, ERN Neuro-NMD, Marseille, France.
Emmanuelle Salort-CampanaReferral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, ERN Neuro-NMD, Marseille, France.
Shahram AttarianReferral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, ERN Neuro-NMD, Marseille, France.
Emilien DelmontReferral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, ERN Neuro-NMD, Marseille, France.ORCID https://orcid.org/0000-0002-5591-2774

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

INTRODUCTION/

aimsIt is imperative to screen asymptomatic carriers of transthyretin (TTR) mutations to initiate treatment early. The protocol for repeated electrodiagnostic (EDX) assessments over time lacks standardization. Our aim was to report the electrophysiological evolution of a cohort of asymptomatic carriers and to determine which biomarkers were most sensitive to change.

methodsWe performed a retrospective review of medical records of asymptomatic carriers identified by screening families with amyloid neuropathy. Carriers who underwent two EDX assessments with a minimum 1-year interval between studies were selected. EDX included analysis of median, ulnar, tibial, fibular and sural nerves, motor unit number index (MUNIX), electrochemical skin conductance, sympathetic skin response, and heart rate variability on deep breathing. Measurements were compared at first and second examinations.

resultsTwenty-three carriers were included with a median age of 49 years (interquartile range 37-58). Median time between examinations was 3 years (2-4). Compound muscle and sensory nerve action potential (CMAP and SNAP) amplitudes, nerve conduction velocities, autonomic small fiber testing and MUNIX remained stable except for motor distal latency of the median nerve (+0.07 ms/year) and CMAP duration of the ulnar (+0.10 ms/year) and fibular (+0.12 ms/year) nerves. The CMAP duration of the ulnar nerve was the most sensitive biomarker to change when performed within 10 years preceding the age of the youngest case in the family, with a standardized response mean of 0.91. DISCUSSION: Nerve conduction parameters remain relatively stable in asymptomatic TTR carriers. Changes can only be detected using multimodal and extensive electrophysiological tests.

Indexed as

ElectrodiagnosisHeterozygoteMutationNeural ConductionPrealbuminAction PotentialsAdultAmyloid Neuropathies, FamilialFemaleHumansMaleMiddle AgedRetrospective StudiesPrealbuminTTR protein, humanasymptomatic carrierselectrophysiological monitoringfamilial amyloid polyneuropathysmall fiber testingtransthyretin

Identifiers

PMID39668650
PMCPMC11708451

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.