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620 results on '"Vallat, J. M."'

14. IVIg increases interleukin-11 levels, which in turn contribute to increased platelets, VWF and FVIII in mice and humans

Author

Nguyen, A, primary, Repesse, Y, additional, Ebbo, M, additional, Allenbach, Y, additional, Benveniste, O, additional, Vallat, J M, additional, Magy, L, additional, Deshayes, S, additional, Maigné, G, additional, de Boysson, H, additional, Karnam, A, additional, Delignat, S, additional, Lacroix-Desmazes, S, additional, Bayry, J, additional, and Aouba, A, additional

Published
2021
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26. A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

Author

Cabrera-Serrano, M, Coote, DJ, Azmanov, D, Goullee, H, Andersen, E, McLean, C, Davis, M, Ishimura, R, Stark, Z, Vallat, J-M, Komatsu, M, Kornberg, A, Ryan, M, Laing, NG, Ravenscroft, G, Cabrera-Serrano, M, Coote, DJ, Azmanov, D, Goullee, H, Andersen, E, McLean, C, Davis, M, Ishimura, R, Stark, Z, Vallat, J-M, Komatsu, M, Kornberg, A, Ryan, M, Laing, NG, and Ravenscroft, G

Abstract

BACKGROUND: UBA5 is the activating enzyme of UFM1 in the ufmylation post-translational modification system. Different neurological phenotypes have been associated with UBA5 pathogenic variants including epilepsy, intellectual disability, movement disorders and ataxia. METHODS AND RESULTS: We describe a large multigenerational consanguineous family presenting with a severe congenital neuropathy causing early death in infancy. Whole exome sequencing and linkage analysis identified a novel homozygous UBA5 NM_024818.3 c.31C>T (p.Arg11Trp) mutation. Protein expression assays in mouse tissue showed similar levels of UBA5 in peripheral nerves to the central nervous system. CRISPR-Cas9 edited HEK (human embrionic kidney) cells homozygous for the UBA5 p.Arg11Trp mutation showed reduced levels of UBA5 protein compared with the wild-type. The mutant p.Arg11Trp UBA5 protein shows reduced ability to activate UFM1. CONCLUSION: This report expands the phenotypical spectrum of UBA5 mutations to include fatal peripheral neuropathy.

Published
2020

46. Antibody‐ and macrophage‐mediated segmental demyelination in chronic inflammatory demyelinating polyneuropathy: clinical, electrophysiological, immunological and pathological correlates.

Author

Vallat, J.‐M., Mathis, S., Vegezzi, E., Richard, L., Duchesne, M., Gallouedec, G., Corcia, P., Magy, L., Uncini, A., and Devaux, J.

Subjects
*CHRONIC inflammatory demyelinating polyradiculoneuropathy, *IMMUNOGLOBULIN M, *IMMUNOGLOBULIN G, *DEMYELINATION, *SODIUM channels, *PERIPHERAL nervous system
Abstract

Background and purpose: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a heterogeneous autoimmune disorder critically lacking diagnostic biomarkers. Autoantibodies to nodal and paranodal components have recently been described in a small subset of patients. Here, the diagnostic value of immune reactivity toward the myelin compartment was investigated. Methods: Ninety‐four French CIDP patients were retrospectively studied. The reactivity toward the peripheral nerve was investigated. Sural nerve biopsies were examined by electron microscopy and immunofluorescence. Results: Twenty‐one patients (22%) and three patients (3%) presented with a strong immunoglobulin G or immunoglobulin M reactivity respectively against the myelin compartment. The clinical, electrophysiological and morphological features were examined in nine of these patients for whom sural nerve biopsies were available. Seven patients were electrodiagnosed with definite CIDP, one with possible CIDP and one was unclassifiable but sural nerve biopsy argued for CIDP diagnosis. Electron microscopy of sural nerve biopsies demonstrated the presence of macrophage‐mediated demyelination restricted to the internode in all nine patients. Immunolabelling for voltage‐gated sodium channels, myelin and axonal markers confirmed the presence of segmental demyelination and of remyelination. The nodal and paranodal regions, however, were unaffected in these patients. Nerve conduction studies corroborated the multifocal and segmental profile, and seven patients showed increased duration of proximal (1.5–5.1 times) and/or distal (1.2–3.4 times) compound muscle action potential in at least two nerves. Conclusion: Antibody‐ and macrophage‐mediated demyelination appears responsible for conduction alterations in CIDP patients and nerve immunostaining assays may serve as a supportive diagnostic biomarker. [ABSTRACT FROM AUTHOR]

Published
2020
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