Noonan S M, Weiss L, Riddle J M
Arch Pathol Lab Med. 1976 Nov;100(11):595-600.
Our preliminary study on the circulating leukocytes from two children with Tay-Sachs disease and six heterozygotes from four different families is reported at the levels of both light and transmission electron microscopy. Ultrastructural investigation revealed two types of cytoplasmic inclusions in the lymphocytes of the Tay-Sachs homozygotes. The heterozygotes demonstrated only one of the inclusion forms within the cytoplasm of their circulating lymphocytes. These fine structural observations have not been described previously in Tay-Sachs disease and they may suggest new functional implications for the involvement of the lymphocyte in this storage disorder.
我们报告了对两名患有泰-萨克斯病的儿童以及来自四个不同家庭的六名杂合子的循环白细胞进行的初步研究,研究在光学显微镜和透射电子显微镜水平上进行。超微结构研究揭示了泰-萨克斯纯合子淋巴细胞中有两种类型的细胞质内含物。杂合子在其循环淋巴细胞的细胞质中仅表现出一种内含物形式。这些精细的结构观察在泰-萨克斯病中以前未曾描述过,它们可能为淋巴细胞参与这种储存障碍提示新的功能意义。