• Nicola De Stefano, Eleonora Cocco, Marina Lai, Marco Battaglini, Andrea Spissu, Piernicola Marchi, Gianluca Floris, Marzia Mortilla, Maria L Stromillo, Andrea Paolillo, Antonio Federico, and Maria Giovanna Marrosu.
• Department of Neurological and Behavioural Sciences, University of Siena, Italy. destefano@unisi.it
• Ann. Neurol. 2006 Apr 1; 59 (4): 634-9.

ObjectiveOur objective was to assess brain damage in first-degree relatives of patients with sporadic and familial multiple sclerosis (MS).MethodsAsymptomatic 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).ResultsA 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.InterpretationFocal 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.

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