Malachowski J A, Jones M Z
Acta Neuropathol. 1983;61(2):95-100. doi: 10.1007/BF00697387.
Beta-Mannosidosis, an inherited glycoprotein metabolic disorder so far identified only in the caprine species, is characterized by deficiency of beta-mannosidase, oligosaccharide accumulation and excretion, neurovisceral cytoplasmic lysosomal storage vacuoles and central nervous system myelin and axonal lesions. In this investigation, transmission electron microscopy was used to study peripheral nerve elements in the gingiva of five affected goats and a control animal. Merkel and Schwann cells were vacuolated. Accumulations of dense bodies distended Merkel cell end plates and free-ending axons in the prickle cell layer as well as Pacinian corpuscle axons, and myelinated, unmyelinated, and demyelinated axons in the lamina propria. Unlike central nervous system myelin paucity, loss of peripheral nerve myelin was exclusively related to axonal dense body accumulation and enlargement. The identification of these lesions may facilitate detection of beta-mannosidosis in man and other species.
β-甘露糖苷贮积症是一种遗传性糖蛋白代谢紊乱疾病，目前仅在山羊中被发现，其特征为β-甘露糖苷酶缺乏、寡糖蓄积和排泄、神经内脏细胞质溶酶体储存空泡以及中枢神经系统髓鞘和轴突病变。在本研究中，使用透射电子显微镜对五只患病山羊和一只对照动物牙龈中的周围神经成分进行了研究。默克尔细胞和施万细胞出现空泡化。致密小体的积聚使默克尔细胞终板和棘细胞层中的游离终末轴突以及环层小体轴突、固有层中的有髓、无髓和脱髓鞘轴突膨胀。与中枢神经系统髓鞘缺乏不同，周围神经髓鞘的丧失仅与轴突致密小体的积聚和增大有关。这些病变的识别可能有助于在人类和其他物种中检测β-甘露糖苷贮积症。
