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Article

Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases.

Neurology - 25 Nov 2008

Kümpfel T, Hoffmann L-A, Pellkofer H, Pöllmann W, Feneberg W, Hohlfeld R, Lohse P

Abstract excerpt

OBJECTIVE: Tumor necrosis factor receptor 1-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited autoinflammatory disorder resulting from mutations in the TNFRSF1A gene, which encodes the p55 receptor for tumor necrosis factor alpha. We recently identified the R92Q mutation encoded by exon 4 in six patients with multiple sclerosis (MS) who reported at least two symptoms suggestive of TRAPS....

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Identifiers

PMID: 19029521
DOI: 10.1212/01.wnl.0000335930.18776.47

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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