Adult neuromuscular pathologies

1. Pathologies of the neuromuscular junction

• • Clinical interest because cohort of > 100 patients with generalized myasthenia gravis, Lambert Eaton syndrome (>30), congenital myasthenia gravis (MYOPHARM project)
  • Electrophysiological interest: repetitive low frequency stimulation, single fiber EMG (performed in less than 10 centers in France)

2. Nerve and muscle ultrasound

• • Diagnosis of dysimmune neuropathies and increased diagnostic yield of ENMG coupled with ultrasound in these pathologies
  • Evaluation of its interest in the follow-up under treatment of dysimmune neuropathies
  • Ultrasound diagnosis of muscular pathologies

3. Techniques developement and/or evaluation in electromyoneurography

Moussy M, Rode J, Maisonobe T, Khanafer N, Bouhour F, Pegat A. Description of an alternative method for the electrodiagnostic evaluation of the sensory radial nerve. Neurophysiol Clin. 2025 Jun;55(3):103058. doi: 10.1016/j.neucli.2025.103058. Epub 2025 Feb 6. PMID: 39919392.

Cluse F, Hermier M, Demarquay G, Rogemond V, Mallaret M, Svahn J, Pegat A, Honnorat J, Bernard E. Trigeminal Nerve Involvement in Bulbar-Onset Anti-IgLON5 Disease. Neurol Neuroimmunol Neuroinflamm. 2023 Aug 22;10(6):e200153. doi: 10.1212/NXI.0000000000200153. PMID: 37607754; PMCID: PMC10584367.

Pegat A, Gavoille A, Bonjour M, Cluse F, Moussy M, Svahn J, Kouton L, Grapperon AM, Verschueren A, Delmont E, Salort-Campana E, Attarian S, Fortanier E, Bouhour F. Is the decrement pattern in myasthenia gravis due to muscle-specific kinase antibodies different to that due to acetylcholine receptor antibodies? Neurophysiol Clin. 2025 Jul 30;55(6):103092. doi: 10.1016/j.neucli.2025.103092. Epub ahead of print. PMID: 40743586.

Links with fundamental research team belonging to the NeuroMyoGene Institute pourfor validation of VUS variant for hereditary neuropathies and myopathies (recent examples of dHMN/COQ7 and XMEA/VMA 21)

• Team of Pr Laurent Schaeffer/Arnaud Jacquier/ Pascal Leblanc (PhD student J. Theuriet)
• Rémi Mounier’s team (PhD student L. Lessard)

Implementation of BaMaRa Rare diseases database of works under the aegis of FILNEMUS :

• Diagnostic wandering in neuromuscular diseases
• “Myasthenia gravis” database

1. Svahn J, Coudert L, Streichenberger N, et al. Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies. Neurol Neuroimmunol Neuroinflamm. 2023;10(1):e200068. doi:10.1212/NXI.0000000000200068

2. Pegat A, Delmont E, Svahn J, et al. Combined Central and Peripheral Demyelination With IgM Anti-Neurofascin 155 Antibodies: Case Report. Neurol Neuroimmunol Neuroinflamm. 2022;9(3):e1160. doi:10.1212/NXI.0000000000001160

3. Pegat A, Svahn J, Gerfaud-Valentin M, Durel CA, Durupt S, Bernard E. IgG4-Related Disease Associated With Myotonic Dystrophy Type 2. Eur J Neurol. 2025;32(7):e70293. doi:10.1111/ene.70293

4. Pegat A, Vogrig A, Khouri C, Masmoudi K, Vial T, Bernard E. Adenovirus COVID-19 Vaccines and Guillain-Barré Syndrome with Facial Paralysis. Ann Neurol. 2022;91(1):162-163. doi:10.1002/ana.26258

5. Diaz-Manera J, Kishnani PS, Kushlaf H, et al. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. Lancet Neurol. 2021;20(12):1012-1026. doi:10.1016/S1474-4422(21)00241-6

6. Theuriet J, Masingue M, Behin A, et al. Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis. Brain. 2024;147(11):3849-3862. doi:10.1093/brain/awae124

7. Theuriet J, Paulet L, Acket B, et al. Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics. Eur J Neurol. 2025;32(7):e70247. doi:10.1111/ene.70247

8. Gerber S, Lessard L, Rouzier C, et al. Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy. EMBO Mol Med. 2023;15(8):e16090. doi:10.15252/emmm.202216090

9. Le Cann M, Bouhour F, Viala K, et al. CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell-targeted therapies. Blood. 2020;136(21):2428-2436. doi:10.1182/blood.2020007092

10. Delorme C, Pégat A, Theuriet J, et al. Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients. Ann Clin Transl Neurol. 2025;12(3):653-658. doi:10.1002/acn3.52296

11. Theuriet J, Gerfaud-Valentin M, Durel CA, Gouya L, Pegat A. Neuralgic amyotrophy presentation of acute intermittent porphyria: A case report. J Peripher Nerv Syst. 2024;29(4):567-569. doi:10.1111/jns.12668