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Multiple sclerosis and subclinical neuropathology in healthy individuals with familial risk: A scoping review of MRI studies.

Neuroimage Clin. 2021 Jun 18;31:102734. doi: 10.1016/j.nicl.2021.102734. Epub ahead of print. PMID: 34171607; PMCID: PMC8234346.

Authors/Editors: Mortazavi M, Hizarci Ö, Gerdes LA, Havla J, Kümpfel T, Hohlfeld R, Stöcklein S, Keeser D, Ertl-Wagner B.
Publication Date: 2021


Multiple genetic and non-heritable factors have been linked to the risk of multiple sclerosis (MS). These factors seem to contribute to disease pathogenesis before the onset of clinical symptoms, as suggested by incidental MRI evidence of subclinical MS neuropathology in individuals without clinical symptoms. Individuals with high familial risk for MS, such as first-degree relatives of patients with MS, can be studied by MRI to characterize the neuropathology during a subclinical period of MS. 16 studies published in English, which performed brain MRI on healthy individuals with high familial risk of MS were included in this scoping review. Studies suggest either no conclusive (5), or inconclusive yet considerable (4), or conclusive evidence (7) for the incidence of subclinical neuropathology, including focal and diffuse tissue damage. Across all studies, white matter lesions fulfilling MS criteria were observed in 86 of 613 individuals (14%). Future research is needed to evaluate the longitudinal dynamics and clinical relevance of preclinical imaging abnormalities in MS.

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