Mediterranean fever (MEFV) gene mutations are associated with familial Mediterranean fever (FMF). Recent studies have suggested that MEFV gene mutations may act as disease modifiers in neuro‐Behçet's (NBD) disease and neuro‐Sweet disease (NSD). We investigated MEFV genes and clinical features in 17 patients with NBD or NSD. MEFV gene mutations were frequently observed (70.6%). Headaches and exertional leg pain were associated with MEFV gene mutations (P < 0.05). Moreover, higher frequency of white matter lesions without sites predilection (P < 0.05) and non‐parenchymal lesions (P < 0.05) were also observed. MEFV gene mutations may be associated with particular findings and lesion sites.

中文翻译：

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神经贝塞特病和神经甜病中的MEFV基因突变。

地中海热（MEFV）基因突变与家族性地中海热（FMF）相关。最近的研究表明，MEFV基因突变可能是神经贝塞特病（NBD）和神经甜病（NSD）的疾病修饰因子。我们调查了17名NBD或NSD患者的MEFV基因和临床特征。经常观察到MEFV基因突变（70.6％）。头痛和运动性腿痛与MEFV基因突变有关（P  <0.05）。此外， 还观察到更高频率的白质病变，无部位偏爱（P  <0.05）和非实质病变（P <0.05）。机动车辆 基因突变可能与特定的发现和病变部位有关。