Preising M N, Lorenz B
Klinik und Poliklinik für Augenheilkunde, Universitätsklinikum Giessen und Marburg GmbH, Standort Giessen, Friedrichstrasse 18, 35392, Giessen, Germany.
Ophthalmologe. 2010 Jul;107(7):612-5. doi: 10.1007/s00347-009-2107-x.
Neuronal ceroid lipofuscinoses are autosomal recessive inherited disorders of neuronal cells. Neuronal ceroid lipofuscinoses belong to the lysosomal storage disorders and are characterized by accumulation of protein-lipid complexes in the lysosomal compartments of all somatic cells. This debris causes degenerative activities in the nervous system, especially in the cerebrum, the cerebellum and the afferent and efferent cranial nerves. With one exception of adult onset the disorder causes the loss of receptive, cognitive and control function in the first decade of life and an early death by the age of 20. Currently 10 loci are known which correlate to 8 genes. The genotype related phenotype and the correlated prognosis depend on the underlying gene and type of mutation. The genotype phenotype correlation is hampered by a lack of knowledge on the function of the mutant gene products. In this review we summarize the known genetic data on neuronal ceroid lipofuscinoses and comment on therapeutic approaches.
神经元蜡样脂褐质沉积症是神经元细胞的常染色体隐性遗传性疾病。神经元蜡样脂褐质沉积症属于溶酶体贮积症，其特征是在所有体细胞的溶酶体区室中积累蛋白质 - 脂质复合物。这种碎片在神经系统中引发退行性活动，尤其是在大脑、小脑以及传入和传出的颅神经中。除了成人发病的情况外，该疾病会在生命的第一个十年导致感觉、认知和控制功能丧失，并在20岁前过早死亡。目前已知有10个基因座与8个基因相关。与基因型相关的表型和相关预后取决于潜在的基因和突变类型。由于对突变基因产物的功能缺乏了解，基因型 - 表型相关性受到阻碍。在这篇综述中，我们总结了关于神经元蜡样脂褐质沉积症的已知遗传数据，并对治疗方法进行了评论。
