Kieseier B C, Wisniewski K E, Park E, Schuller-Levis G, Mehta P D, Goebel H H
Department of Pathological Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA.
Brain Dev. 1997 Jul;19(5):317-22. doi: 10.1016/s0387-7604(97)00025-9.
The neuronal ceroid-lipofuscinoses (NCL) are a group of progressive encephalopathies with a fatal course that are mostly of autosomal recessive inheritance. The pathophysiological mechanisms causing the diseases are not known. The characteristic histomorphological feature of the NCL is an abnormal lysosomal accumulation of lipopigments in neural and extraneural cells, including peripheral blood leukocytes. We studied the function of peripheral venous blood immunocompetent cells in ten patients with NCL and in age- and sex-matched controls to determine how, if at all, the accumulation of intracytoplasmic storage material influences the functional capacity of affected tissue. Our results did not reveal any functional impairment of affected cells, but rather suggested a higher turnover rate in NCL. Apoptosis was increased, suggesting that abnormally controlled programmed cell death might play an important role in the pathogenesis of NCL.
神经元蜡样脂褐质沉积症（NCL）是一组具有致命病程的进行性脑病，大多为常染色体隐性遗传。引发这些疾病的病理生理机制尚不清楚。NCL的特征性组织形态学特征是脂色素在神经细胞和神经外细胞（包括外周血白细胞）中异常溶酶体积聚。我们研究了10例NCL患者以及年龄和性别匹配的对照者外周静脉血免疫活性细胞的功能，以确定胞质内储存物质的积聚是否以及如何影响受影响组织的功能能力。我们的结果未显示受影响细胞有任何功能损害，反而提示NCL中有更高的周转率。细胞凋亡增加，提示异常调控的程序性细胞死亡可能在NCL的发病机制中起重要作用。
