Fernández-Pérez M J, Barakat O, García-Moreno J M, Lucas M, Navarro G, Gata J M, Gamero M A, Duque P, Izquierdo G
Servicio de Neurología, Hospital Universitario Virgen Macarena, Sevilla, España.
Rev Neurol. 1999;29(8):693-6.
Multiple sclerosis (MS) is a demyelinating and inflammatory disease of the central nervous system (CNS) with a clear proved genetic susceptibility. The real frequency and clinical features of familial MS is although not well established in Spain.
We studied the clinical and CSF features of familial MS (FMS) patients in comparison with the rest of our patients.
We reviewed 308 definite MS patients looking for patients with other familial members with MS. We analyzed clinical characteristics (age, age at onset, sex, evolution time, evolution course, symptoms at onset, disability measured by EDSS scale) and IgG synthesis measured by Tibbling-Link index.
We found 23 patients (10 men and 13 women) in 18 independent families with at least other family member diagnosed of definite MS (7.47% of our total MS population). Age and age at onset were no different from non FMS cases. The clinical course was relapsing-remitting in 21 out of 23 FMS cases and secondary progressive in two. No primary progressive cases were found among FMS. At onset the symptom most frequently found in FMS was optic neuritis. Mean EDSS score was lower in FMS cases in comparison with the rest of cases. Link index was increase in 93.7% of patients with FMS.
In comparison with non familiar forms FMS patients in Spain, present more often remitting courses, are less disabled, optical neuritis is more frequently seen as onset symptom and IgG synthesis is more often increased.
多发性硬化症（MS）是一种中枢神经系统（CNS）的脱髓鞘性炎性疾病，具有明确的遗传易感性。尽管在西班牙家族性MS的实际发病率和临床特征尚未完全明确。
我们研究了家族性MS（FMS）患者与其他患者相比的临床和脑脊液特征。
我们回顾了308例确诊的MS患者，寻找有其他家庭成员患MS的患者。我们分析了临床特征（年龄、发病年龄、性别、病程、病情进展过程、发病症状、用扩展残疾状态量表（EDSS）测量的残疾程度）以及用蒂布林-林克指数测量的IgG合成情况。
我们在18个独立家庭中发现了23例患者（10名男性和13名女性），这些家庭中至少有其他家庭成员被诊断为确诊的MS（占我们所有MS患者总数的7.47%）。年龄和发病年龄与非FMS病例无差异。23例FMS病例中有21例临床病程为复发缓解型，2例为继发进展型。FMS中未发现原发性进展型病例。FMS发病时最常见的症状是视神经炎。与其他病例相比，FMS病例的平均EDSS评分较低。93.7%的FMS患者的林克指数升高。
与西班牙非家族性MS患者相比，FMS患者更常出现缓解病程，残疾程度较低，视神经炎更常作为首发症状，且IgG合成更常增加。
