Evidence map›Paper›PMID 42799779›Full record

ArticleJournal of neurology2026

Late-onset CMT neuropathy in the NGS era: a 10-year retrospective study.

Etienne Fortanier, Nathalie Bonello-Palot, Annie Verschueren, Ludivine Kouton, Aude-Marie Grapperon, Emmanuelle Salort-Campana, Giovanni Corazza, Virginie Milhe de Bovis, Luce Barbat du Closel, Emilien Delmont and 1 more

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Article in Journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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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

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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

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Etienne FortanierReference Center for Neuromuscular Diseases and ALS, European Reference Network Neuromuscular Disorders (ERN-NMD), La Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 13385, Marseille, France. etienne.fortanier@ap-hm.fr.ORCID http://orcid.org/0000-0003-2797-9389
Nathalie Bonello-PalotMarseille Medical Genetics, Aix-Marseille University-Inserm UMR 1251, Marseille, France.
Annie VerschuerenReference Center for Neuromuscular Diseases and ALS, European Reference Network Neuromuscular Disorders (ERN-NMD), La Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 13385, Marseille, France.
Ludivine KoutonReference Center for Neuromuscular Diseases and ALS, European Reference Network Neuromuscular Disorders (ERN-NMD), La Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 13385, Marseille, France.
Aude-Marie GrapperonReference Center for Neuromuscular Diseases and ALS, European Reference Network Neuromuscular Disorders (ERN-NMD), La Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 13385, Marseille, France.
Emmanuelle Salort-CampanaReference Center for Neuromuscular Diseases and ALS, European Reference Network Neuromuscular Disorders (ERN-NMD), La Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 13385, Marseille, France.
Giovanni CorazzaReference Center for Neuromuscular Diseases and ALS, European Reference Network Neuromuscular Disorders (ERN-NMD), La Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 13385, Marseille, France.
Virginie Milhe de BovisReference Center for Neuromuscular Diseases and ALS, European Reference Network Neuromuscular Disorders (ERN-NMD), La Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 13385, Marseille, France.
Luce Barbat du CloselReference Center for Neuromuscular Diseases and ALS, European Reference Network Neuromuscular Disorders (ERN-NMD), La Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 13385, Marseille, France.
Emilien DelmontReference Center for Neuromuscular Diseases and ALS, European Reference Network Neuromuscular Disorders (ERN-NMD), La Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 13385, Marseille, France.
Shahram AttarianReference Center for Neuromuscular Diseases and ALS, European Reference Network Neuromuscular Disorders (ERN-NMD), La Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 13385, Marseille, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

aimLate-onset Charcot-Marie-Tooth (CMT) disease remains under-recognized and may mimic acquired neuropathies in older adults. We aimed to determine the prevalence and clinical, electrophysiological, and genetic characteristics of genetically confirmed late-onset CMT and to identify features distinguishing it from late-onset non-CMT neuropathies.

methodsWe retrospectively reviewed all patients who underwent next-generation sequencing (NGS) for suspected hereditary neuropathy between 2015 and 2025 at a single neuromuscular referral center. Late-onset CMT was defined by symptom onset after 50 years and a class 5 pathogenic variant. Clinical, electrophysiological, genetic, and functional data were collected. Patients were compared with a 2:1 age- and sex-matched control group with late-onset neuropathies, negative CMT-targeted NGS, and a confirmed alternative diagnosis.

resultsAmong 642 patients tested after age 50, 57 had genetically confirmed late-onset CMT (8.9%). Pes cavus (80.7%) and a family history of neuropathy (63.2%) were the most frequent clinical features, while disability remained mild. Pathogenic variants involved 20 genes, with a 32% prevalence of PMP22 duplication and frequent involvement of MME, LRSAM1, MPZ, and MFN2. The main alternative diagnoses were inflammatory, idiopathic axonal, and toxic neuropathies. Compared with controls (n = 114), family history, pes cavus, and median nerve conduction velocity < 38 m/s were independently associated with late-onset CMT in multivariate analyses. DISCUSSION: Late-onset CMT accounts for a substantial proportion of neuropathies after age 50. Family history, pes cavus, and slowed median nerve conduction should prompt comprehensive genetic testing, particularly including genes associated with late-onset phenotypes.

Indexed as

Charcot-Marie-Tooth DiseaseAgedAge of OnsetFemaleHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedNerve Conduction StudiesNeural ConductionRetrospective StudiesCMTHereditary neuropathyLate-onsetNGS

Identifiers

PMID42799779

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.