脊髓延髓肌萎缩症（肯尼迪病）中的亚临床自主神经功能障碍。
Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease).
机构信息
Department of Neuroscience, University of Rome Tor Vergata, 00133 Rome, Italy.
出版信息
Muscle Nerve. 2011 Nov;44(5):737-40. doi: 10.1002/mus.22159.
INTRODUCTION
Spinobulbar muscular atrophy (SBMA) is an inherited adult-onset motor neuron disease caused by the expansion of a polyglutamine tract within the androgen receptor. Autonomic nervous system involvement (ANS) is not considered part of SBMA. The aim of this study was to assess autonomic cardiovascular function in 5 SBMA patients.
METHODS
Five quantitative autonomic function tests (AFTs) were performed in 5 SBMA patients. Plasma noradrenaline (NA) concentration in patients and in 5 healthy subjects was also measured.
RESULTS
AFTs were abnormal in 4 of the 5 patients, and plasma NA concentration was significantly reduced in patients with respect to controls.
CONCLUSION
The impairment of cardiovascular responses to AFTs in addition to reduced plasma NA concentration observed in our patients suggests subclinical involvement of the ANS in Kennedy disease.
简介
脊髓延髓肌萎缩症（SBMA）是一种由雄激素受体中多聚谷氨酰胺链的扩展引起的遗传性成人发病的运动神经元疾病。自主神经系统受累（ANS）不被认为是 SBMA 的一部分。本研究的目的是评估 5 名 SBMA 患者的自主心血管功能。
方法
在 5 名 SBMA 患者中进行了 5 项定量自主功能测试（AFT）。还测量了患者和 5 名健康受试者的血浆去甲肾上腺素（NA）浓度。
结果
5 名患者中有 4 名 AFT 异常，患者的血浆 NA 浓度明显低于对照组。
结论
我们的患者观察到心血管对 AFT 的反应受损以及血浆 NA 浓度降低，这表明 Kennedy 病的自主神经系统存在亚临床受累。
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