脊髓性肌萎缩症和延髓性肌萎缩症患者 CAG 重复大小与电生理检查结果的相关性。
Correlation between the CAG repeat size and electrophysiological findings in patients with spinal and bulbar muscular atrophy.
机构信息
Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil Songpa-gu, Seoul, 05505, Republic of Korea.
出版信息
Muscle Nerve. 2018 Apr;57(4):683-686. doi: 10.1002/mus.25977. Epub 2017 Oct 24.
INTRODUCTION
Spinal and bulbar muscular atrophy (SBMA) is caused by the expansion of a CAG repeat in the androgen receptor gene. The relationship between the CAG repeat size and electrophysiological findings is not completely understood.
METHODS
We retrospectively analyzed 62 SBMA patients to assess the correlation between their CAG repeat size and electrophysiological findings.
RESULTS
In multiple regression analysis including age at examination and disease duration, we identified a negative correlation between the CAG repeat size and the compound muscle action potential (CMAP) amplitude. No significant correlation was found between the CAG repeat size and sensory nerve action potential (SNAP) amplitude.
DISCUSSION
Contrary to previous reports of motor- and sensory-dominant phenotypes correlating with CAG repeat sizes, the CAG repeat size was negatively correlated only with CMAP amplitude, and not with SNAP amplitude. Muscle Nerve 57: 683-686, 2018.
简介
脊髓延髓肌萎缩症（SBMA）是由雄激素受体基因中 CAG 重复扩展引起的。CAG 重复大小与电生理发现之间的关系尚未完全阐明。
方法
我们回顾性分析了 62 例 SBMA 患者，以评估其 CAG 重复大小与电生理发现之间的相关性。
结果
在包括检查时年龄和疾病持续时间的多元回归分析中，我们发现 CAG 重复大小与复合肌肉动作电位（CMAP）幅度呈负相关。CAG 重复大小与感觉神经动作电位（SNAP）幅度之间没有显著相关性。
讨论
与先前报道的运动和感觉优势表型与 CAG 重复大小相关的情况相反，CAG 重复大小仅与 CMAP 幅度呈负相关，而与 SNAP 幅度无关。肌肉神经 57:683-686,2018.
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