Getty Amanda L, Rothberg Paul G, Pearce David A
University of Rochester School of Medicine and Dentistry, Center for Neural Development and Disease, Aab Institute of Biomedical Sciences, Box 645, Rochester, New York 14642, USA +1 585 506 1972 ;
Expert Opin Med Diagn. 2007 Nov;1(3):351-62. doi: 10.1517/17530059.1.3.351.
The neuronal ceroid lipofuscinoses (NCL) are a group of rare genetically inherited neurodegenerative disorders in children. These diseases are classified by age of onset (congenital, infantile, late-infantile, juvenile and adult-onset) and by the gene bearing mutations (CLN10/CTSD, CLN1/PPT1, CLN2/TPP1, CLN3, CLN5, CLN6, CLN7/MFSD8 and CLN8). Enzyme activity assays are helpful in identifying several of these disorders; however confirmation of the mutation in the gene causing these diseases is vital for definitive diagnosis. There exists considerable heterogeneity in the NCLs as a whole and within each type of NCL both in phenotype (disease manifestation and progression) and genotype (type of mutation), which complicates NCL diagnosis. In order to streamline the diagnostic process, the age of symptom onset, geography and/or ethnicity, and enzyme activity may be considered together. However, these ultimately serve to guide targeting the correct route to genetic confirmation of an NCL through mutational analysis. Herein, an effective protocol to diagnose NCLs using these criteria is presented.
神经元蜡样脂褐质沉积症（NCL）是一组儿童罕见的遗传性神经退行性疾病。这些疾病按发病年龄（先天性、婴儿期、晚婴儿期、青少年期和成人期）以及携带突变的基因（CLN10/CTSD、CLN1/PPT1、CLN2/TPP1、CLN3、CLN5、CLN6、CLN7/MFSD8和CLN8）进行分类。酶活性测定有助于识别其中几种疾病；然而，确认导致这些疾病的基因突变对于明确诊断至关重要。NCL整体以及每种类型的NCL在表型（疾病表现和进展）和基因型（突变类型）方面都存在相当大的异质性，这使得NCL的诊断变得复杂。为了简化诊断过程，可以综合考虑症状出现的年龄、地理位置和/或种族以及酶活性。然而，这些最终都是为了通过突变分析来指导确定NCL基因确认的正确途径。在此，本文介绍了一种使用这些标准诊断NCL的有效方案。
