Work

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

Year: 2026

Type: article

Abstract: Background and Objectives: . Methods: . Results: pathogenic variants were not found in a cohort of 48 patients with familial and 102 with sporadic MS. 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.

Source: Neurology Genetics

DOI: 10.1212/nxg.0000000000200426

Authors: Marija Menih, Tanja Hojs Fabjan, Aleš Maver, Borut Peterlin

Institutions: University Clinical Centre Maribor, University of Maribor

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,300