Katsavos Serafeim, Artemiadis Artemios, Davaki Panagiota, Stamboulis Eleftherios, Kilindireas Konstantinos, Anagnostouli Maria
Immunogenetics Laboratory, 1st Dept. of Neurology, Medical School of Athens National and Kapodistrian University, Aeginition Hospital, Vas. Sofias Ave. 72-74, Athens, Greece.
1st Dept. of Neurology, Medical School of Athens National and Kapodistrian University, Aeginition Hospital, Vas. Sofias Ave. 72-74, Athens, Greece.
Clin Neurol Neurosurg. 2018 Oct;173:144-149. doi: 10.1016/j.clineuro.2018.08.021. Epub 2018 Aug 13.
Few studies are available worldwide concerning clinical, imaging and genetic/immunogenetic profile of familial multiple sclerosis (fMS). Recent but not systematic data concerning fMS, without direct comparison to sporadic MS (sMS) drove our aim towards further research in the field, given the total lack of information for the Greek population as well. Thus, in this case-control study we examined the clinical and imaging characteristics of 102 fMS-patients, compared to 282 patients suffering sMS.
Patients recruited underwent medical interview (demographic, clinical and family history data collected). They were also assessed for disability and their MRI-scans were analyzed for lesion distribution. Statistical analyses were performed using SPSS v.21.0 software.
49% of unrelated fMS cases had at least one 1 degree relative affected, while the rest had also at least one relative with MS, 3 degree or closer. Only the former subgroup (1 degree relative) and not the entire fMS sample, had significantly younger age at onset (AAO) compared to sMS cases (mean AAO 28.08 vs 31.33 years, p = 0.036). AAO anticipation was noted in younger generation fMS patients (mean AAO 24.67 years in younger generation vs 37 years in older generation, p = 0.001). With regard to our MRI findings, subcortical lesions were less frequent in fMS (71% in fMS vs 81.9% in sMS patients, p = 0.028), whereas cervical cord lesions more frequent (93% in fMS vs 79.9% in sMS patients, p = 0.033, only in the 1 degree relative subgroup). Double vision was a less common first symptom in fMS (4.1% in fMS vs 14.8% in sMS patients, p = 0.005). 1 degree relatives of fMS patients were more often diagnosed with Hashimoto's (8.9% in fMS relatives vs 3.3% in sMS relatives, p = 0.033).
Younger AAO and different lesion distribution in brain and possibly spinal cord was observed in fMS in comparison to sMS patients. The hypothesis of increased genetic burden in fMS could offer some explanation for these differences, which needs though further validation as a next step, through genetic/immunogenetic testing in larger cohorts, of different ethnic groups.
全球范围内关于家族性多发性硬化症（fMS）的临床、影像学及遗传/免疫遗传学特征的研究较少。鉴于希腊人群对此方面完全缺乏信息，近期有关fMS的非系统性数据（未与散发性多发性硬化症（sMS）进行直接比较）促使我们针对该领域展开进一步研究。因此，在这项病例对照研究中，我们对102例fMS患者的临床和影像学特征进行了研究，并与282例sMS患者进行了比较。
招募的患者接受了医学访谈（收集人口统计学、临床和家族史数据）。他们还接受了残疾评估，并对其MRI扫描结果进行了病变分布分析。使用SPSS v.21.0软件进行统计分析。
49%的非亲缘性fMS病例至少有一位一级亲属患病，其余病例也至少有一位患MS的亲属，为三级或更近亲属。只有前一个亚组（一级亲属）而非整个fMS样本，与sMS病例相比发病年龄显著更小（平均发病年龄28.08岁对31.33岁，p = 0.036）。在年轻一代的fMS患者中观察到发病年龄提前（年轻一代平均发病年龄24.67岁，老年一代为37岁，p = 0.001）。关于我们的MRI检查结果，fMS患者皮质下病变较少见（fMS患者中为71%，sMS患者中为81.9%，p = 0.028），而颈髓病变更常见（fMS患者中为93%，sMS患者中为79.9%，p = 0.033，仅在一级亲属亚组中）。复视在fMS中作为首发症状较少见（fMS患者中为4.1%，sMS患者中为14.8%，p = 0.005）。fMS患者的一级亲属更常被诊断为桥本氏病（fMS亲属中为8.9%，sMS亲属中为3.3%，p = 0.033）。
与sMS患者相比，fMS患者发病年龄更小，且脑和可能脊髓的病变分布不同。fMS中遗传负担增加的假说可以为这些差异提供一些解释，不过下一步需要通过对更大队列、不同种族群体进行遗传/免疫遗传学检测来进一步验证。
