Variant rs4149584 (R92Q) of the TNFRSF1A gene in patients with familial multiple sclerosis

Gómez‐Pinedo, Ulises; Torre-Fuentes, Laura; Montero‐Escribano, Paloma; Hernández, Lucas Pérez; Pytel, Vanesa; Maietta, Paolo; Álvarez, Sara; Sanclemente-Alamán, Inmaculada; Moreno-Jiménez, Lidia; Ojeda-Hernández, Doddy Denise; Villar-Gómez, Natalia; Benito‐Martín, María Soledad; Selma-Calvo, Belen; Vidorreta-Ballesteros, Lucía; Madrid, R; Matías‐Guiu, Jordi A.

doi:10.1016/j.nrleng.2022.07.002

Cited by 2 publications

(1 citation statement)

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“…The meningeal inflammation characteristic of MS was found to be associated with a shift in the balance of TNF signalling away from NFkB-mediated anti-apoptotic pathways towards RIPK3-mediated pro-apoptotic/pro-necroptotic signalling in the grey matter [ 38 ]. Cutting-edge research has clarified the association between exonic variants of the TNFRSF1A gene, which encodes one of the TNF-α receptors, in particular the variant rs4149584, with the risk of developing MS [ 39 ]. In agreement with this burden of data, TNF levels in the cerebrospinal fluid has been recently proposed as a biomarker of disease activity and as a tool to predict response to treatment [ 40 ].…”

Section: Introductionmentioning

confidence: 99%

Juvenile Idiopathic Arthritis, Uveitis and Multiple Sclerosis: Description of Two Patients and Literature Review

et al. 2022

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Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in childhood, while multiple sclerosis (MS) is a demyelinating disease of the central nervous system, characterized by remission and exacerbation phases. An association between MS and rheumatologic diseases, in particular rheumatoid arthritis, has been described and numerous studies acknowledge anti-TNF-α drugs as MS triggers. Conversely, the association between MS and JIA has been reported merely in five cases in the literature. We describe two cases of adult patients with longstanding JIA and JIA-associated uveitis, who developed MS. The first patient was on methotrexate and adalimumab when she developed dizziness and nausea. Characteristic MRI lesions and oligoclonal bands in cerebrospinal fluid led to MS diagnosis. Adalimumab was discontinued, and she was treated with three pulses of intravenous methylprednisolone. After a few months, rituximab was started. The second patient had been treated with anti-TNF-α and then switched to abatacept. She complained of unilateral arm and facial paraesthesias; brain MRI showed characteristic lesions, and MS was diagnosed. Three pulses of intravenous methylprednisolone were administered; neurological disease remained stable, and abatacept was reintroduced. Further studies are warranted to define if there is an association between JIA and MS, if MS represents JIA comorbidity or if anti-TNF-α underpins MS development.

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Section: Introductionmentioning

confidence: 99%