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Updated: Apr 23, 2026
Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
Published on: July 19, 2019
MRI phenotypes based on cerebral lesions and atrophy in patients with multiple sclerosis
Shahamat Tauhid1, Mohit Neema1, Brian C Healy1
1Department of Neurology, Brigham and Women's Hospital, Laboratory for Neuroimaging Research, Partners MS Center, Harvard Medical School, Boston, MA, USA.
Background:
While disease categories (i.e. clinical phenotypes) of multiple sclerosis (MS) are established, there remains MRI heterogeneity among patients within those definitions. MRI-defined lesions and atrophy show only moderate inter-correlations, suggesting that they represent partly different processes in MS. We assessed the ability of MRI-based categorization of cerebral lesions and atrophy in individual patients to identify distinct phenotypes.
Methods:
We studied 175 patients with MS [age (mean ± SD) 42.7 ± 9.1 years, 124 (71%) women, Expanded Disability Status (EDSS) score 2.5 ± 2.3, n = 18 (10%) clinically isolated demyelinating syndrome (CIS), n=115 (66%) relapsing-remitting (RR), and n = 42 (24%) secondary progressive (SP)]. Brain MRI measures included T2 hyperintense lesion volume (T2LV) and brain parenchymal fraction (to assess whole brain atrophy). Medians were used to create bins for each parameter, with patients assigned a low or high severity score.
Results:
Four MRI phenotype categories emerged: Type I = low T2LV/mild atrophy [n = 67 (38%); CIS = 14, RR = 47, SP = 6]; Type II = high T2LV/mild atrophy [n = 21 (12%); RR = 19, SP = 2]; Type III = low T2LV/high atrophy [n = 21 (12%); CIS = 4, RR = 16, SP = 1]; and Type IV = high T2LV/high atrophy [n = 66 (38%); RR = 33, S P = 33]. Type IV was the most disabled and was the only group showing a correlation between T2LV vs. BPF and MRI vs. EDSS score (all p < 0.05).
Conclusions:
We described MRI-categorization based on the relationship between lesions and atrophy in individual patients to identify four phenotypes in MS. Most patients have congruent extremes related to the degree of lesions and atrophy. However, many have a dissociation. Longitudinal studies will help define the stability of these patterns and their role in risk stratification.
Insights
This study identified four distinct MRI phenotypes in multiple sclerosis (MS) based on lesion volume and brain atrophy. These MRI phenotypes help differentiate disease progression and patient disability in MS.
Area of Science:
- Neuroimaging
- Neurology
- Radiology
Background:
- Clinical phenotypes of multiple sclerosis (MS) are established, but MRI heterogeneity exists within these categories.
- MRI-defined lesions and atrophy show moderate inter-correlations, suggesting distinct underlying pathological processes in MS.
- This study aimed to categorize MS patients using MRI-based lesion and atrophy data to identify distinct phenotypes.
Purpose of the Study:
- To assess the ability of MRI-based categorization of cerebral lesions and atrophy in individual patients to identify distinct phenotypes.
- To explore the relationship between MRI findings and clinical disability in MS patients.
- To establish novel MRI-defined phenotypes for multiple sclerosis.
Main Methods:
- 175 patients with MS were studied, including clinically isolated syndrome (CIS), relapsing-remitting (RR), and secondary progressive (SP) subtypes.
- Brain MRI measures included T2 hyperintense lesion volume (T2LV) and brain parenchymal fraction (BPF) for atrophy assessment.
- Patients were categorized into low/high severity groups for T2LV and BPF using medians, forming four MRI phenotype categories.
Main Results:
- Four MRI phenotype categories emerged: Type I (low T2LV/mild atrophy), Type II (high T2LV/mild atrophy), Type III (low T2LV/high atrophy), and Type IV (high T2LV/high atrophy).
- Type IV exhibited the highest disability and was the only group showing significant correlations between T2LV, BPF, and EDSS scores.
- The distribution across phenotypes was: Type I (38%), Type II (12%), Type III (12%), and Type IV (38%).
Conclusions:
- MRI-based categorization using lesion load and atrophy identified four distinct phenotypes in MS patients.
- While many patients showed congruent patterns of lesions and atrophy, a significant dissociation was observed in others.
- Further longitudinal studies are needed to determine the stability of these MRI phenotypes and their utility in risk stratification for MS.
