Pardo C A, Rabin B A, Palmer D N, Price D L
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2196.
Am J Pathol. 1994 Apr;144(4):829-35.
The motor neuron degeneration (mnd) mutant mouse, initially described as an autosomal semidominant model of motor neuron disease, is characterized by progressive loss of motor activities and the accumulation of lipofuscin-like material in the cytoplasm of neurons in many regions of the nervous system. The stored material is composed of granular, multilamellar, fingerprint, and curvilinear profiles and degenerating mitochondria. These inclusions are associated with the accumulation of subunit c of mitochondrial adenosine triphosphate synthase in an age-dependent pattern. These abnormalities first appear in neurons of the thalamus, hippocampus, and cortex and eventually involve virtually all nerve cells, including those in the retina and enteric nervous system. This type of neuropathology and the presence of subunit c in neurons of mnd mutant mice are characteristic features of neuronal ceroid lipofuscinosis (NCL). The murine disease resembles Batten's disease, an autosomal recessive disorder and the most common NCL in humans. The mnd mouse should be of great value for investigations of the genetics of NCL, for studies designed to delineate the mechanism that lead to neuronal degeneration in these disorders, and for testing novel therapeutic approaches.
运动神经元变性（mnd）突变小鼠最初被描述为运动神经元疾病的常染色体半显性模型，其特征是运动活动逐渐丧失，以及在神经系统许多区域的神经元细胞质中出现脂褐素样物质的积累。储存的物质由颗粒状、多层状、指纹状和曲线状结构以及退化的线粒体组成。这些内含物与线粒体三磷酸腺苷合酶亚基c的年龄依赖性积累有关。这些异常首先出现在丘脑、海马体和皮质的神经元中，最终几乎累及所有神经细胞，包括视网膜和肠神经系统中的神经细胞。这种神经病理学类型以及mnd突变小鼠神经元中存在亚基c是神经元蜡样脂褐质沉积症（NCL）的特征性表现。这种小鼠疾病类似于巴滕病，一种常染色体隐性疾病，也是人类最常见的NCL。mnd小鼠对于NCL遗传学研究、旨在阐明这些疾病中导致神经元变性机制的研究以及测试新的治疗方法具有重要价值。
