Prevalence of radiologically isolated syndrome and white matter signal abnormalities in healthy relatives of patients with multiple sclerosis
Open accessAbstract
BACKGROUND AND PURPOSE: The exact prevalence of WM signal abnormalities in healthy relatives of MS patients and their impact on disease development has not been fully elucidated. The purpose of this study was to compare WM signal abnormality characteristics and the prevalence of radiologically isolated syndrome in healthy control subjects selected randomly from the population with the healthy relatives of patients with MS. MATERIALS AND METHODS: Healthy control subjects (n = 150) underwent physical and 3T MR imaging examinations. Healthy control subjects were classified as non-familial healthy control subjects (n = 82) if they had no family history of MS or as healthy relatives of patients with MS (n = 68) if they had ≥1 relative affected with MS. The presence of radiologically isolated syndrome was evaluated according to the Okuda criteria; dissemination in space on MR imaging and fulfillment of radiologically isolated syndrome criteria were also evaluated according to Swanton criteria. RESULTS: There was a significantly higher total volume of WM signal abnormality in the healthy relatives of patients with MS compared with the non-familial healthy control subjects (P = .024 for signal abnormality ≥3 mm in size and P = .025 for all sizes). Periventricular localization and the number of lesions in all groups (P = .034 and P = .043) were significantly higher in the healthy relatives of patients with MS; 8.8% of the healthy relatives of patients with MS and 4.9% of non-familial healthy control subjects showed ≥9 WM signal abnormalities; 2.9% of subjects in the healthy relatives of patients with MS group and 2.4% of non-familial healthy control subjects fulfilled radiologically isolated syndrome according to the Okuda criteria, whereas 10.3% and 3.7% of subjects fulfilled radiologically isolated syndrome according to the Swanton criteria. In the healthy relatives of patients with MS, smoking was associated with the presence of WM signal abnormalities, whereas obesity was related to the presence of ≥9 WM signal abnormalities and to fulfillment of radiologically isolated syndrome according to the Swanton criteria. CONCLUSIONS: The frequency of WM signal abnormalities and radiologically isolated syndrome is higher in the healthy relatives of patients with multiple sclerosis patients compared with non-familial healthy control subjects.
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Approximately one-third of RIS cases are diagnosed with MS within five years of presentation.
“Approximately one-third of RIS cases are diagnosed with MS within five years of presentation, most often with a relapsingremitting course 83,86 but occasionally with a primary progressive course. 87,88”
From Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria (2018) · cites this paper as [86]
The Discussion (page unavailable) says this was a cross-sectional pilot study with no longitudinal follow-up data and that a five-year follow-up was planned. Searches for five-year RIS-to-MS conversion and a one-third conversion rate found no passage reporting that estimate; the paper reports RIS prevalence instead. (LLM, conf=0.76)
Experimental — accuracy not yet measuredRIS conversion to MS is most often with a relapsing-remitting course but occasionally with a primary progressive course.
“Approximately one-third of RIS cases are diagnosed with MS within five years of presentation, most often with a relapsingremitting course 83,86 but occasionally with a primary progressive course. 87,88”
From Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria (2018) · cites this paper as [86]
The Discussion says this was a cross-sectional pilot study with no longitudinal follow-up of its participants; a five-year follow-up was planned. Our copy does not report whether people with RIS developed relapsing-remitting or primary progressive MS (searched: primary progressive course, relapsing-remitting conversion). (LLM, conf=0.76)
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Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria
Thompson, A. J., Banwell, B. L., Barkhof, F., Carroll, W. M., Coetzee, T., Comi, G., Correale, J., Fazekas, F., Filippi, M., Freedman, M. S., et al. (2018) · The Lancet Neurology · doi:10.1016/s1474-4422(17)30470-2 · Cited by 8,167 · see citing works
- Authors
- Gabelic, T., Ramasamy, D. P., Weinstock-Guttman, B., Hagemeier, J., Kennedy, C., Melia, R., Hojnacki, D., Ramanathan, M., & Zivadinov, R.
- Affiliations
- University at Buffalo, State University of New York (US)
- Venue
- American Journal of Neuroradiology
- Published
- 2013-07-25
- Volume
- 35
- Issue
- 1
- Pages
- 106-112
- ISSN
- 0195-6108 (ISSN-L)
- 1936-959X
- PMC
- PMC7966501
- OpenAlex
- W2123372270
- Cited by
- 51
- References
- 2
- Citations by year
- 2026: 1 · 2023: 5 · 2022: 2 · 2021: 7 · 2020: 5 · 2019: 6 · 2018: 4 · 2017: 4 · 2016: 5 · 2015: 6 · 2014: 4 · 2013: 2
- FWCI
- 4.25
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- American Journal of Neuroradiology (publishedVersion, cc-by)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Health Sciences › Medicine › Oncology › Polyomavirus and related diseases
- Health Sciences › Medicine › Neurology › Cerebrovascular and genetic disorders
- Keywords
- radiologically isolated syndrome, multiple sclerosis, white matter signal abnormalities, familial risk, periventricular lesions, dissemination in space, smoking, obesity
- MeSH terms
- Adult, Female, Humans, Magnetic Resonance Imaging, Male, Multiple Sclerosis, Nerve Fibers, Myelinated, New York, Reference Values, Risk Factors, Sensitivity and Specificity, Syndrome, Reproducibility of Results, Prevalence, Sex Distribution, Genetic Predisposition to Disease
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