Walsh F S, Moore S E, Lake B D
J Neurol Neurosurg Psychiatry. 1987 Apr;50(4):439-42. doi: 10.1136/jnnp.50.4.439.
Immunocytochemical analysis utilising antibody to neural cell adhesion molecule (N-CAM) was carried out on skeletal muscle biopsies from patients with childhood spinal muscular atrophy. Children with both Werdnig-Hoffmann and Kugelberg-Welander disease showed positive N-CAM reactivity. There were however differences in the N-CAM expression profiles in these two sets of patients. All myofibres were positive for N-CAM in the Werdnig-Hoffmann patients. This included both the normal sized fibres and the atrophic fibres. In contrast only the atrophic fibres were positive in the Kugelberg-Welander patients. No reactivity was found associated with the large hypertrophic fibres. It is likely that in the Werdnig-Hoffmann patients the positive N-CAM reactivity reflects unstable innervation of myofibres that had been previously innervated. A similar mechanism may operate in the Kugelberg-Welander patients, but the innervation of the hypertrophic fibres is more stable as they are able to repress N-CAM expression. These results contrast with a lack of N-CAM expression found previously on muscle biopsies from adults with denervation disease.
利用抗神经细胞黏附分子（N-CAM）抗体对儿童脊髓性肌萎缩症患者的骨骼肌活检组织进行了免疫细胞化学分析。患有韦尼克-霍夫曼病和库格尔贝格-韦兰德病的儿童均显示出N-CAM反应阳性。然而，这两组患者的N-CAM表达谱存在差异。在韦尼克-霍夫曼病患者中，所有肌纤维的N-CAM均呈阳性。这包括正常大小的纤维和萎缩纤维。相比之下，在库格尔贝格-韦兰德病患者中，只有萎缩纤维呈阳性。未发现与大型肥大纤维相关的反应性。在韦尼克-霍夫曼病患者中，N-CAM阳性反应可能反映了先前已接受神经支配的肌纤维的不稳定神经支配。类似的机制可能在库格尔贝格-韦兰德病患者中起作用，但肥大纤维的神经支配更稳定，因为它们能够抑制N-CAM的表达。这些结果与先前在成人去神经疾病患者的肌肉活检组织中发现的缺乏N-CAM表达形成对比。
