Two Cases of Multiple Sclerosis in a Family With X-Linked Charcot-Marie-Tooth Disease

Q: What does this research mean for the field?

Although a novel variant in GJB1 is associated with a familial case of multiple sclerosis, genetic variation in GJB1 is not a common risk factor for either familial or sporadic multiple sclerosis. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.SUPPORTS_CONSENSUS.

Marija Menih; Tanja Hojs Fabjan; Aleš Maver; Borut Peterlin

doi:10.1212/nxg.0000000000200426

August 27, 2026Neurology GeneticsOpen Access

Two Cases of Multiple Sclerosis in a Family With X-Linked Charcot-Marie-Tooth Disease

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Key Points

To assess whether pathogenic variants in GJB1 represent a broader genetic risk factor for familial or sporadic multiple sclerosis.
Analyzed clinical and genetic findings in a family exhibiting co-occurring X-linked Charcot-Marie-Tooth disease and multiple sclerosis.
Screened for pathogenic GJB1 variants across an independent cohort of 48 patients with familial multiple sclerosis and 102 patients with sporadic multiple sclerosis.
Identified a novel GJB1 variant linked to a familial presentation of multiple sclerosis.
Identified no pathogenic GJB1 variants in either the 48 familial or 102 sporadic multiple sclerosis cases (0/150).

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Implication

Genetic cohort screening uncovers no GJB1 variants in familial or sporadic multiple sclerosis, indicating GJB1 mutations are not a common broad risk factor.

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Cite This Study

Menih et al. (2026) studied this question.

synapsesocial.com/papers/6a93f02f6c1a8fb52e79c2b7 https://doi.org/10.1212/nxg.0000000000200426

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Two Cases of Multiple Sclerosis in a Family With X-Linked Charcot-Marie-Tooth Disease

Key Points

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Abstract

Discussion

Cite This Study

Two Cases of Multiple Sclerosis in a Family With X-Linked Charcot-Marie-Tooth Disease

Key Points

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Implication

Abstract

Discussion

Cite This Study

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