Evidence map›Paper›PMID 39891740›Full record

ArticleJournal of neurology2025

Neurological manifestations in patients with VEXAS syndrome.

Charlotte Bert-Marcaz, Étienne Fortanier, Antoine Briantais, Benoit Faucher, Rim Bourguiba, Laure Swiader, Nicolas Schleinitz, Giovanni Corazza, Rodolphe Jean, Adrien Bigot and 33 more

Erratum issuedAbstract readMulticenter Study
PubMed Publisher
In one paragraph

Article in Journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
  4. Article
  5. A Case of VEXAS Syndrome Presenting with Unexplained HeadacheTurkish journal of haematology : official journal of Turkish Society of Haematology · 2025
    Article
  6. [VEXAS syndrome].Zeitschrift fur Rheumatologie · 2025
    Review
  7. Frequency and Relevance of MYD88European journal of neurology · 2025
    Article
  8. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

43 authors.

Charlotte Bert-MarcazInternal Medicine Department, Aix Marseille Univ, APHM, hôpital de la Timone, 264 Rue Saint-Pierre, 13385, Marseille, France.ORCID http://orcid.org/0000-0002-0389-9942
Étienne FortanierNeurology Department, Reference Center for Neuromuscular Diseases and ALS, Aix-Marseille University, AP-HM, La Timone Hospital, Marseille, France.
Antoine BriantaisInternal Medicine Department, Aix Marseille Univ, APHM, hôpital de la Timone, 264 Rue Saint-Pierre, 13385, Marseille, France.
Benoit FaucherInternal Medicine Department, Aix Marseille Univ, APHM, hôpital de la Timone, 264 Rue Saint-Pierre, 13385, Marseille, France.
Rim BourguibaDepartment of Internal Medicine, Mongi Slim University Hospital, La Marsa, Tunisia.
Laure SwiaderInternal Medicine Department, Aix Marseille Univ, APHM, hôpital de la Timone, 264 Rue Saint-Pierre, 13385, Marseille, France.
Nicolas SchleinitzInternal Medicine Department, Aix Marseille Univ, APHM, hôpital de la Timone, 264 Rue Saint-Pierre, 13385, Marseille, France.
Giovanni CorazzaNeurology Department, Reference Center for Neuromuscular Diseases and ALS, Aix-Marseille University, AP-HM, La Timone Hospital, Marseille, France.
Rodolphe JeanDepartment of Internal Medicine, Aix-Marseille University, AP-HM, La Conception, Marseille, France.
Adrien BigotDepartment of Internal Medicine, University Hospital of Tours, Bretonneau Hospital, Tours, France.
Paola Marianetti-GuingelDepartment of Internal Medicine and infectious diseases, University Hospital of Reims, Robert Debré Hospital, Reims, France.
Marie KostineDepartment of Rheumatology, University Hospital of Bordeaux, Pellegrin Hospital, Bordeaux, France.
Roderau OuthDepartment of Internal Medicine, Perpignan Hospital, Perpignan, France.
Yannick DieudonnéDepartment of Internal Medicine, University Hospital of Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.
Estibaliz LazaroDepartment of Internal Medicine and infectious diseases, University Hospital of Bordeaux, Haut-Lévêque Hospital, Pessac, France.
Guillaume VialDepartment of Internal Medicine, University Hospital of Bordeaux, Saint André Hospital, Bordeaux, France.
Sylvain PalatDepartment of Internal Medicine, University Hospital of Limoges, Dupuytren Hospital, Limoges, France.
Simon FrachetDepartment of Neurology, University Hospital of Limoges, Dupuytren Hospital, Limoges, France.
Sébastien De Almeida ChavesDepartment of Internal Medicine, Hospital University of Toulouse, Purpan Hospital, Toulouse, France.
Stéphane VinzioDepartment of Internal Medicine, Groupe Hospitalier Mutualiste de Grenoble, Grenoble, France.
Karim SacréDepartment of Internal Medicine, University of Paris, AP-HP, Bichat-Claude Bernard Hospital, Paris, France.
Marie RobertDepartment of Internal Medicine, University of Paris, AP-HP, Bichat-Claude Bernard Hospital, Paris, France.
Thilbault ComontDepartment of Internal Medicine, Hospital University of Toulouse, IUCT Oncopole, Toulouse, France.
Jérémie DionDepartment of Internal Medicine, Hospital University of Toulouse, IUCT Oncopole, Toulouse, France.
Pierre GirardieDepartment of Neurology, Hospital University of Toulouse, IUCT Oncopole, Toulouse, France.
Valentin LacombeDepartment of Internal Medicine, Haut-Anjou Hospital, Château-Gontier, France.
Vincent LangloisDepartment of Internal Medicine, Groupe Hospitalier du Havre, Le Havre, France.
Vincent JachietDepartment of Internal Medicine, Sorbonne University, CeReMAIA reference centre, Hôpital Saint-Antoine AP-HP, Paris, France.
Paul DeckerDepartment of Internal Medicine, University Hospital of Nancy, Brabois Hospital, Vandœuvre-lès-Nancy, France.
Thomas MoulinetDepartment of Internal Medicine, University Hospital of Nancy, Brabois Hospital, Vandœuvre-lès-Nancy, France.
Sylvie GrosleronDepartment of Internal Medicine, Hospitals of Agen-Nérac, Agen Hospital, Agen, France.
Jonathan BronerDepartment of Internal Medicine, University Hospital of Nîmes, Carémeau Hospital, Nîmes, France.
Philippe GuilpainDepartment of Internal Medicine, University Hospital of Montpellier, Saint-Éloi Hospital, Montpellier, France.
Maxime SamsonDepartment of Internal Medicine, University Hospital of Dijon, François Mitterrand Hospital, Dijon, France.
Benjamin TerrierDepartment of Internal Medicine, University of Paris, AP-HP, Cochin Hospital, Paris, France.
Sophie Georgin-LavialleDepartment of Internal Medicine, University of Paris, AP-HP, Tenon Hospital, Paris, France.
Sharham AttarianNeurology Department, Reference Center for Neuromuscular Diseases and ALS, Aix-Marseille University, AP-HM, La Timone Hospital, Marseille, France.
Arsène MekinianDepartment of Internal Medicine, Sorbonne University, CeReMAIA reference centre, Hôpital Saint-Antoine AP-HP, Paris, France.
Emilien DelmontNeurology Department, Reference Center for Neuromuscular Diseases and ALS, Aix-Marseille University, AP-HM, La Timone Hospital, Marseille, France.
Mikael EbboInternal Medicine Department, Aix Marseille Univ, APHM, hôpital de la Timone, 264 Rue Saint-Pierre, 13385, Marseille, France. ebbo@ciml.univ-mrs.fr.
FRENVEX
MINHEMON
FILNEMUS

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently described syndrome linked to somatic mutations in the UBA1 gene, causing systemic autoinflammatory manifestations. To date, few data are available concerning neurological manifestations. The aim of this study was to describe their prevalence, clinical spectrum and outcome under treatment.

methodsRetrospective multicentre study including patients with VEXAS syndrome from the French VEXAS Registry between November 2020 and March 2023. Additional cases were included after a national call for observations. Each patient with confirmed UBA1 somatic mutation and neurological manifestation was reviewed during multidisciplinary meetings. Clinical, radiological, biological characteristics, treatments, and outcome were described.

resultsOf the 291 patients included in the French VEXAS Registry, 17 (6%) had central (CNS) or peripheral (PNS) neurological involvement, with 13 additional cases identified by the national call. Of the 30 patients included, 21 (70%) had PNS involvement and 9 (30%) CNS involvement. PNS involvements included polyneuropathy (n = 9), cranial nerve involvement (n = 7), non-length-dependent polyneuropathy (n = 5) and multiple mononeuropathy (n = 3). CNS involvements included encephalopathy (n = 6), lacunar cerebral infarcts (n = 4), posterior reversible encephalopathy syndrome (n = 3) and optic perineuritis (n = 2). Most neurological manifestations were improved by steroids (68%), steroid-sparing agents were used in 90% [most frequently ruxolitinib (n = 11), azacitidine (n = 8), tocilizumab (n = 4)], and mortality was 30% after a median follow-up of 4 years.

conclusionsNeurological manifestations may occur in a small but possibly underestimated proportion of patients with VEXAS syndrome, are heterogeneous and can involve both PNS and CNS.

Indexed as

Genetic Diseases, X-LinkedNervous System DiseasesUbiquitin-Activating EnzymesAdolescentAdultAgedChildFemaleFranceHumansMaleMiddle AgedMyelodysplastic SyndromesRegistriesRetrospective StudiesSkin Diseases, GeneticUBA1 protein, humanUbiquitin-Activating EnzymesCIDPNeurological manifestationsNeuropathyUBA1VEXAS

Identifiers

PMID39891740

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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.