Imaging brain damage in first-degree relatives of sporadic and familial multiple sclerosis
Imaging brain damage in first-degree relatives of sporadic and familial multiple sclerosis
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DOI：
10.1002/ana.20767
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发表时间：
2006-04-01
影响因子：
11.2
通讯作者：
Marrosu, MG
中科院分区：
文献类型：
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作者：
De Stefano, N;Cocco, E;Marrosu, MG
目的：我们的目的是评估散发性和家族性多发性硬化症 (MS) 患者的一级亲属的脑损伤。方法 对散发性 MS（sMS，n = 152）和家族性 MS（fMS n = 88）的无症状一级亲属以及健康志愿者（NC，n = 56）进行脑 MRI 和移动 MR 扫描磁化转移 (MT) 成像。在 MR 检查中，我们目视评估白质 (WM) 病变，并量化 WM 病变体积、脑体积以及病变和正常外观 WM (NAWM) 中的 MT 比率 (MTr)。结果：在 4% sMS 和 10% fMS 中发现了与 MS 患者相似的病变 MR 模式。在这些 WM 病变中，MTr 低于 NC 的 WM 病变 (p < 0.0001)。相比之下，三组之间的 NAWM-MTr 和脑容量值没有差异。解释 与多发性硬化症患者无法区分的局灶性脑异常发生在多发性硬化症患者的无症状一级亲属中。 fMS 中的这些症状比 sMS 中的频率高两倍，但不会导致 MS 患者中常见的广泛组织损伤。尽管多发性硬化症患者的一级亲属存在出现提示局灶性脱髓鞘的大脑异常的遗传易感性，但其他因素可能对于弥漫性、临床相关病理学的发展至关重要。
Objective: Our objective was to assess brain damage in first-degree relatives of patients with sporadic and familial multiple sclerosis (MS). Metho 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.