ArticleNeurology. Genetics2026
Two Cases of Multiple Sclerosis in a Family With X-Linked Charcot-Marie-Tooth Disease.
Article in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background and Objectives: The aim of this study was to present a case report of the first familial case of multiple sclerosis (MS) in an X-linked Charcot-Marie-Tooth family with a novel variant in Methods: Clinical, neurophysiologic, neuroimaging, and genetic assessments were performed on 9 affected members of a large X-linked Charcot-Marie-Tooth (CMTX) family, including 2 who also developed MS. The 2 family members with CMTX and MS were screened for pathogenic variants in 245 genes associated with MS. We tested 150 independent patients with MS, 48 familial and 102 sporadic for rare pathogenic variants in Results: A novel missense pathogenic variant (c.502T > G, p.Cys168Gly) in Discussion: This is a novel report of a familial case of MS related to the novel variant in GJB1. Although our report adds additional evidence for the increased risk of MS in carriers of pathogenic variants in GJB1, we demonstrate that genetic variation in GJB1 is not a common risk factor, neither in familial nor sporadic MS.
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