Mole S E
Department of Paediatrics, University College London Medical School, United Kingdom.
Neurobiol Dis. 1998 Nov;5(5):287-303. doi: 10.1006/nbdi.1998.0209.
The neuronal ceroid lipofuscinoses (NCLs, also known as Batten disease) are the most common childhood neurodegenerative disease. They are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent storage material in many cell types. Clinical features include seizures, psychomotor deterioration, and blindness, the ages and order of onset of which differ for each NCL type. An increasing number of subtypes caused by mutations in different genes are now recognized. With the advent of molecular genetics the basic genetic defect underlying each NCL phenotype is being determined, thus shedding light on the molecular basis of the NCLs and opening the way for the development of effective treatment. Four genes have been identified to date. The function of two of these is known and suggests that the primary defect in the NCLs lies in lysosomal proteolysis, the first example of this type of disease. However, since the function of the other two genes remains elusive, and at least four more genes remain to be identified, the molecular basis underlying the NCLs may be more complex than originally predicted.
神经元蜡样脂褐质沉积症（NCLs，也称为巴顿病）是最常见的儿童神经退行性疾病。它们是一组遗传性神经退行性疾病，其特征是在许多细胞类型中积累自发荧光储存物质。临床特征包括癫痫发作、精神运动发育迟缓以及失明，每种NCL类型的发病年龄和顺序各不相同。现在已经认识到越来越多由不同基因突变引起的亚型。随着分子遗传学的出现，每种NCL表型背后的基本遗传缺陷正在被确定，从而揭示了NCLs的分子基础，并为开发有效治疗方法开辟了道路。迄今为止已鉴定出四个基因。其中两个基因的功能已知，这表明NCLs的主要缺陷在于溶酶体蛋白水解，这是这类疾病的首个例子。然而，由于另外两个基因的功能仍然难以捉摸，并且至少还有四个基因有待鉴定，NCLs背后的分子基础可能比最初预测的更为复杂。
