Abstract：
OBJECTIVE: Neurological abnormalities have been frequently reported in individuals with Marfan Syndrome (MFS). However, available data relies solely on retrospective studies predating current diagnostic criteria.
METHODS: Cross-sectional study comprehensively investigating neurological abnormalities within a prospective cohort of adults (≥ 18 years) with genetically confirmed MFS referred to an Italian hub center for heritable connective tissue diseases (Jan. 1st - Nov. 15th, 2021).
RESULTS: We included a total of 38 individuals (53% female). The commonest neurological symptom was migraine (58%), usually without aura (73%). Neuropsychological testing was generally unremarkable, whilst anxiety and depression were highly prevalent within our cohort (42% and 34%, respectively). The most frequent brain parenchymal abnormality was the presence of cortico-subcortical hypointense spots on brain MRI T2* Gradient-Echo sequences (39%), which were found only in patients with a prior history of aortic surgery. Migraineurs had a higher frequency of brain vessels tortuosity vs. individuals without migraine (73% vs. 31%; p = 0.027) and showed higher average and maximum tortuosity indexes in both anterior and posterior circulation brain vessels (all p < 0.05). At univariate regression analysis, the presence of brain vessels tortuosity was significantly associated with a higher risk of migraine (OR 5.87, CI 95% 1.42-24.11; p = 0.014).
CONCLUSIONS: Our study confirms that neurological abnormalities are frequent in individuals with MFS. While migraine appears to be associated with brain vessels tortuosity, brain parenchymal abnormalities are typical of individuals with a prior history of aortic surgery. Larger prospective studies are needed to understand the relationship between parenchymal abnormalities and long-term cognitive outcomes.
METHODS: Cross-sectional study comprehensively investigating neurological abnormalities within a prospective cohort of adults (≥ 18 years) with genetically confirmed MFS referred to an Italian hub center for heritable connective tissue diseases (Jan. 1st - Nov. 15th, 2021).
RESULTS: We included a total of 38 individuals (53% female). The commonest neurological symptom was migraine (58%), usually without aura (73%). Neuropsychological testing was generally unremarkable, whilst anxiety and depression were highly prevalent within our cohort (42% and 34%, respectively). The most frequent brain parenchymal abnormality was the presence of cortico-subcortical hypointense spots on brain MRI T2* Gradient-Echo sequences (39%), which were found only in patients with a prior history of aortic surgery. Migraineurs had a higher frequency of brain vessels tortuosity vs. individuals without migraine (73% vs. 31%; p = 0.027) and showed higher average and maximum tortuosity indexes in both anterior and posterior circulation brain vessels (all p < 0.05). At univariate regression analysis, the presence of brain vessels tortuosity was significantly associated with a higher risk of migraine (OR 5.87, CI 95% 1.42-24.11; p = 0.014).
CONCLUSIONS: Our study confirms that neurological abnormalities are frequent in individuals with MFS. While migraine appears to be associated with brain vessels tortuosity, brain parenchymal abnormalities are typical of individuals with a prior history of aortic surgery. Larger prospective studies are needed to understand the relationship between parenchymal abnormalities and long-term cognitive outcomes.
摘要：
目的：在患有马凡氏综合征（MFS）的个体中经常报告神经系统异常。然而,现有数据仅依赖于早于当前诊断标准的回顾性研究.
方法：横断面研究全面调查具有遗传证实的MFS的前瞻性成人队列中的神经系统异常（1月11月1日-11月15th,2021)。
结果：我们共纳入38名个体（53%为女性）。最常见的神经系统症状是偏头痛（58%），通常没有光环（73%）。神经心理学测试通常不明显，而焦虑和抑郁在我们的队列中非常普遍(42%和34%，分别)。最常见的脑实质异常是脑MRIT2*Gradient-Echo序列上存在皮质-皮质下低斑点（39％），仅在有主动脉手术史的患者中发现。偏头痛患者的脑血管弯曲频率较高。无偏头痛的个体（73%vs.31％；p=0.027），并且在前循环和后循环脑血管中均显示出较高的平均和最大弯曲指数（均p<0.05）。在单变量回归分析中，脑血管弯曲的存在与偏头痛的高风险显著相关(OR5.87,CI95%1.42-24.11;p=0.014).
结论：我们的研究证实，神经系统异常在MFS患者中很常见。虽然偏头痛似乎与脑血管弯曲有关，脑实质异常在有主动脉手术史的个体中是典型的。需要更大的前瞻性研究来了解实质异常与长期认知结果之间的关系。
方法：横断面研究全面调查具有遗传证实的MFS的前瞻性成人队列中的神经系统异常（1月11月1日-11月15th,2021)。
结果：我们共纳入38名个体（53%为女性）。最常见的神经系统症状是偏头痛（58%），通常没有光环（73%）。神经心理学测试通常不明显，而焦虑和抑郁在我们的队列中非常普遍(42%和34%，分别)。最常见的脑实质异常是脑MRIT2*Gradient-Echo序列上存在皮质-皮质下低斑点（39％），仅在有主动脉手术史的患者中发现。偏头痛患者的脑血管弯曲频率较高。无偏头痛的个体（73%vs.31％；p=0.027），并且在前循环和后循环脑血管中均显示出较高的平均和最大弯曲指数（均p<0.05）。在单变量回归分析中，脑血管弯曲的存在与偏头痛的高风险显著相关(OR5.87,CI95%1.42-24.11;p=0.014).
结论：我们的研究证实，神经系统异常在MFS患者中很常见。虽然偏头痛似乎与脑血管弯曲有关，脑实质异常在有主动脉手术史的个体中是典型的。需要更大的前瞻性研究来了解实质异常与长期认知结果之间的关系。
