Neurological Aspects of Hereditary Disorders of Connective Tissue

这项研究集中在NIA 2003-086计划中登记的患有结缔组织遗传性疾病的患者的神经学表现，例如埃勒斯-丹洛斯综合征和马凡综合征。根据动态心动图监测数据和血压测量的频域分析，30%的EDS受试者有自主神经功能障碍并伴有交感神经张力增加和立位性心动过速。其病因尚不清楚，目前正在通过其他测量和结构异常的相关性进行调查。用高盐饮食和β-受体阻滞剂等传统方法治疗并不成功。其他发现包括偏头痛和周围神经病的发病率增加。通过对大脑和脊柱的核磁共振成像来研究结构发现。Chiari I型畸形的高发生率、脊髓栓系、非恶性胶质细胞增生症的存在、脑囊性结构的发生率增加是值得注意的发现。后颅窝和椎管的测量结果与未受影响的人显著不同。初步数据显示，这类接受神经外科手术的患者更有可能出现术后并发症。

This study is focused on the neurological findings in patients with heritable disorders of connective tissue, such as Ehlers Danlos Syndrome and Marfan Syndrome, who are enrolled in protocol 2003-086 at the NIA. Autonomic dysfunction with increased sympathetic tone and post orthostatic tachycardia has been documented in 30% of the subjects with EDS, based on frequency domain analysis of the Holter monitor data and blood pressure measurements. The etiology of this is unknown, and is under investigation with additional measurements and correlations with structural abnormalities. Treatment with traditional approaches such as high salt diet and beta blockade are not successful. Other findings include increased incidence of migraines and peripheral neuropathies. Structural findings are investigated by MRI of the brain and spine. A high incidence of Chiari I malformation, tethered spinal cord, presence of non-malignant gliosis, increased incidence of cystic structures in the brain are notable findings. Measurements of the posterior fossa and spinal canal are significantly different than unaffected persons. Initial data indicates that such patients undergoing neurosurgical procedures are more likely to have post surgical complications.