Roffler-Tarlov S, Herrup K
Brain Res. 1981 Jun 29;215(1-2):49-59. doi: 10.1016/0006-8993(81)90490-x.
Quantitative morphological techniques have revealed several new aspects of the action of the Staggerer mutant gene. Staggerer is an autosomal recessive gene which causes ataxia and severe malformation of the cerebellar cortex in mice. The Purkinje cells of the cerebellar cortex are small, abnormal in morphology and reduced in numbers. The close synaptic and developmental relationship of Purkinje cells with the cells of the deep cerebellar nuclei (dcn) lead us to look for effects of the Staggerer mutation on the dcn neurons. The volume of the deep nuclear region is shrunken in Staggerer and there is a reduction in the volume of the white matter. These findings account for the reduced wet weights and protein concentration found by Roffler-Tarlov and Sidman. In contrast to the cells of the cortex, where 75% of the medium-to-large neurons are missing, the number of cells present in Staggerer dcn is identical to wild-type. The dcn neurons are not completely spared, however. Measurements of cross-sectional cell area revealed a 30% shrinkage of neurons in Staggerer dcn. The most likely interpretation of previous work and the current findings is that the Staggerer gene acts early in development but exerts its effects directly only on those derivatives of the ventricular zone in the roof of the fourth ventricle which are destined to become Purkinje and Golgi cells.
定量形态学技术揭示了蹒跚突变基因作用的几个新方面。蹒跚基因是一种常染色体隐性基因，可导致小鼠共济失调和小脑皮质严重畸形。小脑皮质的浦肯野细胞体积小、形态异常且数量减少。浦肯野细胞与小脑深部核团（dcn）细胞之间紧密的突触和发育关系，促使我们去寻找蹒跚突变对dcn神经元的影响。在蹒跚小鼠中，深部核团区域的体积缩小，白质体积也减少。这些发现解释了罗夫勒 - 塔尔洛夫和西德曼所发现的湿重减轻和蛋白质浓度降低的现象。与皮质细胞不同，皮质中75%的中大型神经元缺失，而蹒跚小鼠dcn中的细胞数量与野生型相同。然而，dcn神经元并未完全幸免。对细胞横截面积的测量显示，蹒跚小鼠dcn中的神经元面积缩小了30%。对先前研究工作和当前研究结果最合理的解释是，蹒跚基因在发育早期起作用，但仅直接作用于第四脑室顶部室管膜区那些注定会成为浦肯野细胞和高尔基细胞的衍生物。
