Neurological Aspects of Hereditary Disorders of Connective Tissue

结缔组织遗传性疾病的神经学方面

基本信息

  • 批准号:
    8552500
  • 负责人:
  • 金额:
    $ 13.11万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
  • 资助国家:
    美国
  • 起止时间:
  • 项目状态:
    未结题

项目摘要

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.
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。

项目成果

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Nazli Mcdonnell其他文献

Nazli Mcdonnell的其他文献

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{{ truncateString('Nazli Mcdonnell', 18)}}的其他基金

Endocrine Abnormalities in Hereditary Disorders of Connective Tissue
结缔组织遗传性疾病的内分泌异常
  • 批准号:
    8552498
  • 财政年份:
  • 资助金额:
    $ 13.11万
  • 项目类别:
Genetics of Fibromuscular Dysplasia
纤维肌发育不良的遗传学
  • 批准号:
    8552497
  • 财政年份:
  • 资助金额:
    $ 13.11万
  • 项目类别:
Proteomics and Gene Expression in Hereditary Disorders of Connective Tissue
结缔组织遗传性疾病的蛋白质组学和基因表达
  • 批准号:
    8335950
  • 财政年份:
  • 资助金额:
    $ 13.11万
  • 项目类别:
Molecular Investigations of the RCCX module in Congenital Adrenal Hyperplasia
先天性肾上腺增生症中 RCCX 模块的分子研究
  • 批准号:
    8552355
  • 财政年份:
  • 资助金额:
    $ 13.11万
  • 项目类别:
Genetics of Stickler Syndrome
Stickler综合征的遗传学
  • 批准号:
    8335951
  • 财政年份:
  • 资助金额:
    $ 13.11万
  • 项目类别:
Molecular Investigations of the RCCX module in subjects with Congenital Adrenal
先天性肾上腺受试者 RCCX 模块的分子研究
  • 批准号:
    7732189
  • 财政年份:
  • 资助金额:
    $ 13.11万
  • 项目类别:
Hereditary Disorders Of Connective Tissue--Clinical And Molecular Studies
结缔组织遗传性疾病--临床和分子研究
  • 批准号:
    7732277
  • 财政年份:
  • 资助金额:
    $ 13.11万
  • 项目类别:
Musculoskeletal Aging in Hereditary Disorders of Connective Tissue
结缔组织遗传性疾病中的肌肉骨骼老化
  • 批准号:
    8156792
  • 财政年份:
  • 资助金额:
    $ 13.11万
  • 项目类别:
Hereditary Disorders Of Connective Tissue-Cardiovascular Features
结缔组织-心血管特征的遗传性疾病
  • 批准号:
    8148284
  • 财政年份:
  • 资助金额:
    $ 13.11万
  • 项目类别:
Hereditary Disorders Of Connective Tissue-Cardiovascular Features
结缔组织-心血管特征的遗传性疾病
  • 批准号:
    8335888
  • 财政年份:
  • 资助金额:
    $ 13.11万
  • 项目类别:

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