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Imaging brain damage in first‐degree relatives of sporadic and familial multiple sclerosis
Author(s) -
De Stefano Nicola,
Cocco Eleonora,
Lai Marina,
Battaglini Marco,
Spissu Andrea,
Marchi Piernicola,
Floris Gianluca,
Mortilla Marzia,
Stromillo Maria L.,
Paolillo Andrea,
Federico Antonio,
Marrosu Maria Giovanna
Publication year - 2006
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20767
Subject(s) - first degree relatives , multiple sclerosis , medicine , family history , psychiatry
Objective Our objective was to assess brain damage in first‐degree relatives of patients with sporadic and familial multiple sclerosis (MS).Methods 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).Results 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.Interpretation 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