Neurological Aspects of Hereditary Disorders of Connective Tissue

本研究的重点是遗传性结缔组织疾病患者的神经系统检查结果，如Ehlers Danlos综合征和Marfan综合征，这些患者在NIA入组方案2003-086。根据霍尔特监测数据和血压测量的频域分析，在30%的EDS受试者中记录了自主神经功能障碍伴交感神经张力增加和直立性心动过速。其病因不明，正在通过其他测量和与结构异常的相关性进行研究。传统的治疗方法如高盐饮食和β受体阻滞剂并不成功。其他发现包括偏头痛和周围神经病变的发病率增加。通过脑部和脊柱的MRI研究结构发现。基亚里I畸形、脊髓栓系、非恶性胶质细胞增生、脑内囊性结构发生率增加的发生率高是值得注意的发现。后颅窝和椎管的测量结果与未受影响的人有显著差异。初步数据表明，接受神经外科手术的此类患者更有可能发生术后并发症。

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.