Hirano A, Llena J F, French J H, Ghatak N R
Arch Neurol. 1977 Jan;34(1):52-6. doi: 10.1001/archneur.1977.00500130072014.
The cerebellar cortices in two patients with X-chromosome-linked copper malabsorption (Menkes kinky-hair disease) were examined with both the light and electron microscope. Somatic sprouts and grotesque dendritic arborization were among the obvious light microscopical changes. At the fine structural level, the Purkinje cells were characterized by the presence of somatic spines although the surviving granule cells had already descended. Most spines were parts of synaptic complexes, but some were unattached to any presynaptic element. Similar spines were also observed on dendritic trunks. Astrocytic gliosis and nonspecific endothelial cell changes were noted.
对两名患有X染色体连锁铜吸收障碍（门克斯卷发综合征）的患者的小脑皮质进行了光镜和电镜检查。体细胞芽生和怪异的树突分支是明显的光镜下变化。在精细结构水平上，浦肯野细胞的特征是存在体细胞棘，尽管存活的颗粒细胞已经下降。大多数棘是突触复合体的一部分，但有些未与任何突触前元件相连。在树突干上也观察到类似的棘。还注意到星形胶质细胞增生和非特异性内皮细胞变化。
