The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of rare monogenic neurodegenerative diseases predominantly affecting children. All NCLs are lethal and incurable and only one has an approved treatment available. To date, 13 NCL subtypes (CLN1-8, CLN10-14) have been identified, based on the particular disease-causing defective gene. The exact functions of NCL proteins and the pathological mechanisms underlying the diseases are still unclear. However, gene therapy has emerged as an attractive therapeutic strategy for this group of conditions. Here we provide a short review discussing updates on the current gene therapy studies for the NCLs.

神经元蜡样脂褐质沉积症 (NCL)，也称为巴顿病，是一组罕见的单基因神经退行性疾病，主要影响儿童。所有 NCL 都是致命且无法治愈的，只有一种获得批准的治疗方法。迄今为止，基于特定的致病缺陷基因，已经确定了 13 个 NCL 亚型（CLN1-8、CLN10-14）。NCL蛋白的确切功能和疾病背后的病理机制尚不清楚。然而，基因治疗已成为这组疾病的有吸引力的治疗策略。在这里，我们提供了一个简短的评论，讨论当前 NCL 基因治疗研究的更新。