Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
J Neurol Neurosurg Psychiatry. 2010 May;81(5):567-71. doi: 10.1136/jnnp.2009.190462. Epub 2009 Dec 3.
Spinal and bulbar muscular atrophy (SBMA) is a lower motor neuron disease caused by the expansion of a trinucleotide CAG repeat in the androgen receptor (AR) gene. The fundamental histopathological finding of this disease is an extensive loss of lower motor neurons in the spinal cord and brainstem. It is, however, difficult to evaluate clinically the degree of motor neuron degeneration, which stresses the need for biomarkers to detect the remaining neuronal function.
The authors performed motor unit number estimation (MUNE) in 52 patients with SBMA, to investigate whether this method could be a potential biomarker of SBMA, and re-evaluated MUNE 1 year later in a subgroup of the patients.
The number of functioning motor units was remarkably reduced in patients with SBMA compared with controls, and was correlated with both ipsilateral grip power and disease duration. A longitudinal analysis demonstrated a further reduction in motor units within 1 year.
The results suggest that MUNE is an electrophysiological parameter that reflects the severity and progression of motor neuron degeneration in patients with SBMA.
脊髓延髓肌萎缩症（SBMA）是一种由雄激素受体（AR）基因中三核苷酸 CAG 重复扩展引起的下运动神经元疾病。这种疾病的基本组织病理学发现是脊髓和脑干中大量的下运动神经元丧失。然而，临床上很难评估运动神经元变性的程度，这强调了需要生物标志物来检测剩余神经元的功能。
作者对 52 例 SBMA 患者进行了运动单位数量估计（MUNE），以探讨该方法是否可作为 SBMA 的潜在生物标志物，并在患者亚组中 1 年后重新评估了 MUNE。
与对照组相比，SBMA 患者的功能运动单位数量明显减少，与对侧握力和疾病持续时间相关。纵向分析显示，1 年内运动单位进一步减少。
结果表明，MUNE 是一种反映 SBMA 患者运动神经元变性严重程度和进展的电生理学参数。
