Terzi Murat, Taskın Emre, Unal Akdemir Neslihan, Bagcı Hasan, Onar Musa
1Department of Neurology, Ondokuz Mayis University Faculty of Medicine , Samsun , Turkey.
Int J Neurosci. 2015 Feb;125(2):116-22. doi: 10.3109/00207454.2014.913170. Epub 2014 May 27.
Central nervous system (CNS) involvement in patients with familial Mediterranean fever (FMF) is considerably rare. Patients with FMF may exhibit clinical and radiologic symptoms similar to multiple sclerosis (MS). However, the impact of the Familial Mediterranean Fever Gene (MEFV) mutations on the clinical course of MS is not fully understood as yet.
In our study, we investigated the presence of probable MEFV mutations in patients diagnosed with definite MS and the association of these mutations with the clinical course, radiologic characteristics and disability status of the individuals. A total of 105 patients diagnosed with definite MS according to the McDonald criteria and a control group of 112 non-symptomatic individuals were included in the study.
Thirty-seven patients (35.2%) had MEFV gene mutations; three were compound heterozygotes (M694V/E148Q; M694V/V726A; P369S/E148Q) and one was homozygous for P369S. No statistically significant differences were found among patients with MS and healthy individuals with respect to existing mutations. In addition, we did not observe a statistically significant relationship between MEFV mutations and the gender of the patients, oligoclonal band (OCB) positivity, Expanded Disability Status Scale (EDSS), disease onset age, clinical presentation, affected neurologic systems, existence of spinal lesions, response to immunomodulatory treatment, time to reach EDSS scores of 3 and 6, the number of attacks and the average number of lesions on a brain MRI.
Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. However, additional research studies involving more patients with MS and clinical forms are warranted to confirm our results.
家族性地中海热（FMF）患者中枢神经系统（CNS）受累相当罕见。FMF患者可能表现出与多发性硬化症（MS）相似的临床和放射学症状。然而，家族性地中海热基因（MEFV）突变对MS临床病程的影响尚未完全明确。
在我们的研究中，我们调查了确诊为明确MS的患者中可能存在的MEFV突变，以及这些突变与个体临床病程、放射学特征和残疾状态的关联。本研究共纳入了105例根据麦克唐纳标准确诊为明确MS的患者以及112例无症状个体作为对照组。
37例患者（35.2%）存在MEFV基因突变；3例为复合杂合子（M694V/E148Q；M694V/V726A；P369S/E148Q），1例为P369S纯合子。在MS患者和健康个体之间，就现有突变而言未发现统计学上的显著差异。此外，我们未观察到MEFV突变与患者性别、寡克隆带（OCB）阳性、扩展残疾状态量表（EDSS）、疾病发病年龄、临床表现、受累神经系统、脊髓病变的存在、免疫调节治疗反应、达到EDSS评分3和6的时间、发作次数以及脑部MRI上的平均病变数量之间存在统计学上的显著关系。
我们的结果表明，MEFV基因突变不影响MS患者的神经预后。然而，需要开展更多涉及更多MS患者及临床类型的研究来证实我们的结果。
