Pearson J, Dancis J, Axelrod F, Grover N
J Neuropathol Exp Neurol. 1975 Sep;34(5):413-24. doi: 10.1097/00005072-197509000-00004.
In familial dysautonomia there are malfunctions of motor, sensory and autonomic systems. The sural nerve has reduced transverse fascicular area, diminished numbers of myelinated axons (particularly those of small diameter) and very few non-myelinated axons. Catecholamine containing endings are not found in accompanying arteries. These changes are compatible with reduced neuronal populations described in sympathetic and sensory ganglia. The observed pathology accounts for many of the clinical features of the disease and suggests an abnormality in intrauterine development.
在家族性自主神经功能异常中,运动、感觉和自主神经系统均存在功能障碍。腓肠神经的横断束状面积减小,有髓轴突数量减少(尤其是小直径轴突),无髓轴突极少。在伴行动脉中未发现含儿茶酚胺的神经末梢。这些变化与交感神经节和感觉神经节中所述的神经元数量减少相符。观察到的病理学表现解释了该疾病的许多临床特征,并提示子宫内发育存在异常。