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Multicenter Study
. 2025 Feb 1;272(2):181.
doi: 10.1007/s00415-025-12902-x.

Neurological manifestations in patients with VEXAS syndrome

Charlotte Bert-Marcaz  1 , Étienne Fortanier  2 , Antoine Briantais  1 , Benoit Faucher  1 , Rim Bourguiba  3 , Laure Swiader  1 , Nicolas Schleinitz  1 , Giovanni Corazza  2 , Rodolphe Jean  4 , Adrien Bigot  5 , Paola Marianetti-Guingel  6 , Marie Kostine  7 , Roderau Outh  8 , Yannick Dieudonné  9 , Estibaliz Lazaro  10 , Guillaume Vial  11 , Sylvain Palat  12 , Simon Frachet  13 , Sébastien De Almeida Chaves  14 , Stéphane Vinzio  15 , Karim Sacré  16 , Marie Robert  16 , Thilbault Comont  17 , Jérémie Dion  17 , Pierre Girardie  18 , Valentin Lacombe  19 , Vincent Langlois  20 , Vincent Jachiet  21 , Paul Decker  22 , Thomas Moulinet  22 , Sylvie Grosleron  23 , Jonathan Broner  24 , Philippe Guilpain  25 , Maxime Samson  26 , Benjamin Terrier  27 , Sophie Georgin-Lavialle  28 , Sharham Attarian  2 , Arsène Mekinian  21 , Emilien Delmont  2 , Mikael Ebbo  29 ; FRENVEX; MINHEMON; FILNEMUS
Collaborators, Affiliations
Multicenter Study

Neurological manifestations in patients with VEXAS syndrome

Charlotte Bert-Marcaz et al. J Neurol. .

Erratum in

  • Correction: Neurological manifestations in patients with VEXAS syndrome.
    Bert-Marcaz C, Fortanier É, Briantais A, Faucher B, Bourguiba R, Swiader L, Schleinitz N, Corazza G, Jean R, Bigot A, Marianetti-Guingel P, Kostine M, Outh R, Dieudonné Y, Lazaro E, Vial G, Palat S, Frachet S, De Almeida Chaves S, Vinzio S, Sacré K, Robert M, Comont T, Dion J, Girardie P, Lacombe V, Langlois V, Jachiet V, Decker P, Moulinet T, Grosleron S, Broner J, Guilpain P, Samson M, Terrier B, Georgin-Lavialle S, Attarian S, Mekinian A, Delmont E, Ebbo M; FRENVEX; MINHEMON; FILNEMUS. Bert-Marcaz C, et al. J Neurol. 2025 May 16;272(6):401. doi: 10.1007/s00415-025-13047-7. J Neurol. 2025. PMID: 40377697 No abstract available.

Abstract

Background: VEXAS 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.

Methods: Retrospective 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.

Results: Of 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.

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

Keywords: CIDP; Neurological manifestations; Neuropathy; UBA1; VEXAS.

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Conflict of interest statement

Declarations. Conflicts of interest: No author has any conflict of interest to declare.

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