The neuronal ceroid lipofuscinoses (NCL) are a group of disorders defined by shared clinical and pathological features, including seizures and progressive decline in vision, neurocognition, and motor functioning, as well as accumulation of autofluorescent lysosomal storage material, or ‘ceroid lipofuscin’. Research has revealed thirteen distinct genetic subtypes. Precisely how the gene mutations lead to the clinical phenotype is still incompletely understood, but recent research progress is starting to shed light on disease mechanisms, in both gene-specific and shared pathways. As the application of new sequencing technologies to genetic disease diagnosis has grown, so too has the spectrum of clinical phenotypes caused by mutations in the NCL genes. Most genes causing NCL have probably been identified, underscoring the need for a shift towards applying genomics approaches to achieve a deeper understanding of the molecular basis of the NCLs and related disorders. Here, we summarize the current understanding of the thirteen identified NCL genes and the proteins they encode, touching upon the spectrum of clinical manifestations linked to each of the genes, and we highlight recent progress leading to a broader understanding of key pathways involved in NCL disease pathogenesis and commonalities with other neurodegenerative diseases.

神经元类固醇脂质体（NCL）是一组由共同的临床和病理特征定义的疾病，包括癫痫发作和视力的逐步下降，神经认知和运动功能，以及自体荧光溶酶体存储材料或``类固醇脂质体''的积累。研究发现了十三种不同的遗传亚型。精确地了解基因突变如何导致临床表型的方法尚不完全清楚，但是最近的研究进展开始阐明基因特异性途径和共享途径中的疾病机制。随着新的测序技术在遗传疾病诊断中的应用不断增长，由NCL基因突变引起的临床表型范围也越来越广。大多数引起NCL的基因可能已经被鉴定出，强调需要转向应用基因组学方法，以更深入地了解NCL和相关疾病的分子基础。在这里，我们总结了目前对十三种已鉴定的NCL基因及其编码的蛋白质的理解，并触及了与每个基因相关的临床表现，并强调了最近的进展，从而使人们对NCL疾病的关键途径有了更广泛的了解。发病机理及与其他神经退行性疾病的共性。