Imaging brain damage in first-degree relatives of sporadic and familial multiple sclerosis
Article first published online: 23 FEB 2006
Copyright © 2006 American Neurological Association
Annals of Neurology
Volume 59, Issue 4, pages 634–639, April 2006
How to Cite
De Stefano, N., Cocco, E., Lai, M., Battaglini, M., Spissu, A., Marchi, P., Floris, G., Mortilla, M., Stromillo, M. L., Paolillo, A., Federico, A. and Marrosu, M. G. (2006), Imaging brain damage in first-degree relatives of sporadic and familial multiple sclerosis. Ann Neurol., 59: 634–639. doi: 10.1002/ana.20767
- Issue published online: 24 MAR 2006
- Article first published online: 23 FEB 2006
- Manuscript Accepted: 27 OCT 2005
- Manuscript Revised: 16 OCT 2005
- Manuscript Received: 19 AUG 2005
- Serono Foundation, Italy
Our objective was to assess brain damage in first-degree relatives of patients with sporadic and familial multiple sclerosis (MS).
Asymptomatic first-degree relatives of sporadic (sMS, n = 152) and familial MS (fMS, n = 88) and healthy volunteers (NC, n = 56) underwent brain MRI and magnetization transfer (MT) imaging on a mobile MR scan. On MR examinations, we visually assessed white matter (WM) lesions and quantified WM lesion volumes, brain volumes, and MT ratio (MTr) in lesions and normal-appearing WM (NAWM).
A lesional MR pattern similar to that of MS patients was found in 4% sMS and 10% fMS. In these WM lesions, MTr was lower (p < 0.0001) than in the WM of NC. In contrast, there was no difference in NAWM-MTr and brain volume values between the three groups.
Focal brain abnormalities indistinguishable from those of MS occur in asymptomatic first-degree relatives of MS patients. These are twice more frequent in fMS than in sMS but do not lead to the widespread tissue damage commonly found in MS patients. Although there is a genetic susceptibility to develop brain abnormalities suggestive of focal demyelination in first-degree relatives of MS patients, other factors are probably critical for the development of a diffuse, clinically relevant, pathology. Ann Neurol 2006