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

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2 · The registry

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3 · Its place in the literature

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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

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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.