Takashima S, Becker L E, Chan F W, Augustin R
Exp Neurol. 1985 Jun;88(3):652-72. doi: 10.1016/0014-4886(85)90078-0.
Golgi and computer morphometric analysis of neuronal dendrites was done on four cases, one each of Tay-Sachs disease, infantile type 2 sialidosis, Hurler's syndrome, and Sanfilippo's syndrome. There were large meganeurites on pyramidal neurons in Tay-Sachs disease, and small ones in Hurler's and Sanfilippo's syndromes. All the meganeurites in these three diseases were predominantly distal to the soma in layer 3, but close to it in layer 5. These findings may be accounted for by different rates of ganglioside accumulation and cortical neuronal morphogenesis. Computer morphometric analysis revealed atrophic or less developed layer 5 dendritic length and branching in Tay-Sachs disease, sialidosis, and Hurler's syndrome compared with tissues from control patients. These dendritic changes may be secondary to ganglioside accumulation or due to abnormal surface membrane production during dendritic development. This study contributes to an understanding of how enzyme deficiency is translated into abnormal cell structure and, presumably, function.
对4例患者进行了高尔基体和计算机形态计量学分析,其中1例为泰-萨克斯病,1例为婴儿型2型唾液酸沉积症,1例为胡勒综合征,1例为桑菲利波综合征。泰-萨克斯病的锥体神经元上有大型巨神经突,胡勒综合征和桑菲利波综合征的则较小。这三种疾病中的所有巨神经突在第3层主要位于胞体远端,但在第5层靠近胞体。这些发现可能是由于神经节苷脂积累速率和皮质神经元形态发生不同所致。计算机形态计量学分析显示,与对照患者的组织相比,泰-萨克斯病、唾液酸沉积症和胡勒综合征中第5层树突长度和分支萎缩或发育不良。这些树突变化可能继发于神经节苷脂积累,或由于树突发育过程中表面膜产生异常。本研究有助于理解酶缺乏如何转化为异常的细胞结构以及可能的功能。