Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021:31:102734.
doi: 10.1016/j.nicl.2021.102734. Epub 2021 Jun 18.

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

Matin Mortazavi  1 , Öznur Hizarci  2 , Lisa Ann Gerdes  3 , Joachim Havla  4 , Tania Kümpfel  5 , Reinhard Hohlfeld  3 , Sophia Stöcklein  6 , Daniel Keeser  2 , Birgit Ertl-Wagner  7
Affiliations

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

Matin Mortazavi et al. Neuroimage Clin. 2021.

Abstract

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.

Keywords: Clinical discordance; Familial risk; Magnetic resonance imaging; Multiple sclerosis; Prodromal phase; Subclinical pathology.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Fig. 1
Fig. 1
Article inclusion flowchart. First, the PubMed search engine was used to look for research reports that included any of our 6 different combinations of keywords, which described our target subject sample and data type (e.g., the combination “multiple sclerosis” AND “relatives” AND “imaging”). The abstract/summary of the initially found papers were screened to only include reports of in-vivo studies which included healthy/asymptomatic individuals at familial risk of MS and also used variables derived from MRI data as one of their main outcomes or screening measures. Then, the full reports of the nominated studies were read and only 16 studies were selected to be included in the review paper. These were studies in English language which aimed at or investigated MRI-based incidence of subclinical neuropathology in healthy subjects with high familial risk of MS.
See this image and copyright information in PMC

References

    1. Aly L., Havla J., Lepennetier G., Andlauer T.F., Sie C., Strauß E.M., Mühlau M. Inner retinal layer thinning in radiologically isolated syndrome predicts conversion to multiple sclerosis. European Journal of Neurology. 2020 - PubMed
    1. L.J. Balk D. Coric B. Knier H.G. Zimmermann R. Behbehani R. Alroughani P. Albrecht Retinal inner nuclear layer volume reflects inflammatory disease activity in multiple sclerosis; a longitudinal OCT study Multiple Sclerosis Journal-Experimental, Translational and Clinical 5 3 2019 2055217319871582. - PMC - PubMed
    1. Barkhof F., Filippi M., Miller D.H., Scheltens P., Campi A., Polman C.H., Valk J. Comparison of MRI criteria at first presentation to predict conversion to clinically definite multiple sclerosis. Brain: a journal of neurology. 1997;120(11):2059–2069. - PubMed
    1. Beltrán E., Gerdes L.A., Hansen J., Flierl-Hecht A., Krebs S., Blum H., Dornmair K. Early adaptive immune activation detected in MZ twins with prodromal multiple sclerosis. Journal of Clinical Investigation. 2019;129(11):4758–4768. - PMC - PubMed
    1. Buscarinu M.C., Fornasiero A., Ferraldeschi M., Romano S., Reniè R., Morena E., Salvetti M. Disentangling the molecular mechanisms of multiple sclerosis: The contribution of twin studies. Neuroscience & Biobehavioral Reviews. 2020 - PubMed

Publication types

MeSH terms