Drachman D B, Fambrough D M
Arch Neurol. 1976 Jul;33(7):485-8. doi: 10.1001/archneur.1976.00500070027005.
An underlying neurogenic abnormality has recently been postulated in the muscular dystrophies. To test this hypothesis, we applied a widely accepted criterion of denervation-ie, and increase in extrajunctional acetyicholine (ACh) receptor sites--to muscles biopsy specimens from nine patients with myotonic dystrophy and three with amyotrophic lateral scierosis (ALS). The ACh receptor sites were determined by means of iodine 125-labeled alpha-bungarotoxin binding, measured by scintillation counting and autoradiography. None of the myotonic dystrophy muscles showed increased extrajunctiona ACh receptor sites, even in the smallest fibers. By contrast, muscle biopsy specimens from patients with ALS showed notably increased extrajunctional ACh receptor sites, especially in the small fibers. Our findings do not support the hypothesis of a neurogenic defect in myotonic dystrophy.
最近有人提出，肌营养不良症存在潜在的神经源性异常。为验证这一假说，我们将一种广泛接受的失神经支配标准（即接头外乙酰胆碱（ACh）受体位点增加）应用于9例强直性肌营养不良症患者和3例肌萎缩侧索硬化症（ALS）患者的肌肉活检标本。通过闪烁计数和放射自显影法，采用125碘标记的α-银环蛇毒素结合来测定ACh受体位点。强直性肌营养不良症患者的肌肉均未显示接头外ACh受体位点增加，即使是最小的肌纤维也未增加。相比之下，ALS患者的肌肉活检标本显示接头外ACh受体位点显著增加，尤其是在小肌纤维中。我们的研究结果不支持强直性肌营养不良症存在神经源性缺陷的假说。
