Neurological Aspects of Hereditary Disorders of Connective Tissue

本研究的重点是遗传结缔组织疾病（如Ehlers Danlos综合征和Marfan综合征）患者的神经学发现，这些患者在NIA的2003-086方案中登记。根据霍尔特监测数据和血压测量的频域分析，在30%的EDS患者中记录有自主神经功能障碍，交感神经张力增加和直立性心动过速。病因尚不清楚，正在通过额外的测量和与结构异常的相关性进行调查。传统的治疗方法，如高盐饮食和β阻断治疗并不成功。其他发现包括偏头痛和周围神经病变的发病率增加。颅脑和脊柱MRI检查结构。高发生率的Chiari I型畸形，脊髓栓系，非恶性胶质瘤的存在，脑部囊性结构的发生率增加是值得注意的发现。后窝和椎管的测量与未受影响的人有明显不同。初步数据表明，接受神经外科手术的这类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.