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Familial multiple sclerosis: MRI findings in clinically affected and unaffected siblings
P J Tienari1, O Salonen, J Wikström
1Department of Neurology, University of Helsinki, Finland.
Abstract:
Subclinical demyelinating lesions may occur in the brains of asymptomatic individuals, and the first-degree relatives of multiple sclerosis (MS) patients are at particular risk. Clinical and MRI examinations were performed in nine sibships from families with two or more cases of MS. These included 14 patients with clinically definite MS, three patients with clinically probable MS, and 27 asymptomatic siblings. Systematic criteria were applied to MRI interpretations to increase their specificity for MS. Thirteen (76%) of the 17 patients with MS showed lesions suggesting MS. Lesions were also found in six (38%) of the 16 asymptomatic siblings under age 50 and in eight (73%) of the 11 over age 50. Judged by stringent criteria, the lesions of only three (11%) of the 27 asymptomatic siblings were considered to be due to demyelination. The results demonstrate the occurrence of subclinical demyelination in asymptomatic siblings of MS patients and stress the importance of clinical follow up and MRI studies of the first-degree relatives when classifying them as healthy in family studies.
Insights
Subclinical demyelination, or brain lesions, can appear in asymptomatic individuals. First-degree relatives of multiple sclerosis patients show a higher risk, necessitating clinical follow-up and MRI studies.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Subclinical demyelinating lesions are observed in asymptomatic individuals.
- First-degree relatives of multiple sclerosis (MS) patients exhibit increased risk.
Purpose of the Study:
- To investigate the occurrence of subclinical demyelination in asymptomatic siblings of MS patients.
- To assess the diagnostic utility of MRI in identifying MS-related lesions in relatives.
Main Methods:
- Clinical and MRI examinations were conducted on nine sibships with multiple MS cases.
- Systematic MRI interpretation criteria were applied to enhance specificity for MS.
- Participants included 14 definite MS, 3 probable MS, and 27 asymptomatic siblings.
Main Results:
- Seventy-six percent of MS patients showed suggestive lesions.
- Lesions were found in 38% of asymptomatic siblings under 50 and 73% over 50.
- Only 11% of asymptomatic siblings had lesions definitively attributed to demyelination by stringent criteria.
Conclusions:
- Subclinical demyelination occurs in asymptomatic siblings of MS patients.
- Clinical follow-up and MRI are crucial for classifying relatives in family studies.
- Early detection of demyelination in relatives is vital for understanding MS heritability.