MRC Laboratory for Molecular Cell Biology, Department of Molecular Medicine, UCL Institute of Child Health, University College London, UK.
Neurology. 2012 Jul 10;79(2):183-91. doi: 10.1212/WNL.0b013e31825f0547.
We provide a new classification for the neuronal ceroid lipofuscinoses (NCLs) that takes into account recent genetic and biochemical advances. This was originally developed by an international group with clinical, molecular genetic, biological, and morphologic interests, further revised by a panel of world experts in the NCLs, and is now updated in light of recent research findings. The aim is to provide young people, carers, and professionals with a diagnostic label that is informative, leads to effective clinical management of symptoms and in the future perhaps a cure, as well as aiding basic scientific and clinical research. We suggest that clinicians should aim to provide every child and family with detailed diagnostic information at clinical, biochemical, and genetic levels where possible, which the new classification allows in a gene-led hierarchical manner. The robustness and applicability of this updated new classification have been independently audited in the clinical setting using a series of patients previously diagnosed with NCL according to standard ultrastructural, biochemical, or genetic criteria.
我们提供了一种新的神经元蜡样脂褐质沉积症（NCL）分类，该分类考虑了最近的遗传和生化进展。这是由一个具有临床、分子遗传学、生物学和形态学兴趣的国际小组最初制定的，后来由一组 NCL 领域的世界专家进一步修订，现在根据最近的研究结果进行了更新。其目的是为年轻人、照顾者和专业人员提供一个信息丰富的诊断标签，该标签可有效管理症状，并在未来可能治愈疾病，同时还可辅助基础科学和临床研究。我们建议临床医生应尽可能在临床、生化和遗传层面为每个孩子和家庭提供详细的诊断信息，新的分类以基因引导的分层方式允许这样做。使用一系列先前根据标准超微结构、生化或遗传标准诊断为 NCL 的患者，在临床环境中对这种经过更新的新分类的稳健性和适用性进行了独立审核。
