神经元类神经脂褐细胞病综述从先天性到学龄前儿童的表型

M. Shimono, A. Senju
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引用次数: 0

摘要

神经性脑蜡样脂质病(NCLs)临床按发病年龄分为婴儿期、婴儿期晚期、少年期和成年期NCLs。然而,这种分类不能总是预测致病基因;例如,CLN1不仅引起婴儿NCL,而且引起晚发性婴儿和成人NCL。2012年,考虑到最近的遗传和生物化学进展,对ncl进行了新的分类。本文综述了新生儿至学龄前儿童可能引起症状的ncl: CLN10(新生儿)、CLN1(6-48个月)、CLN14(8-24个月)、CLN2(1-6岁)、CLN3(4-7岁)、CLN5(4-6岁)、CLN6(18个月-8岁)、CLN7(2-7岁)和CLN8(5-10岁)。没有根本的治疗方法,但有一些治疗方法的试验。
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A Short Commentary of Neuronal Ceroid Lipofuscinoses; Phenotypes inCongenital to Preschooler
The classification of neuronal ceroid lipofuscinoses (NCLs) had been clinically divided according to the age at the onset of symptoms: infantile, late infantile, juvenile and adult NCLs. However, this classification cannot always predict the causative gene; i.e., CLN1, for example, causes not only infantile NCL but also late onset infantile and adult NCLs. In 2012, a new classification for the NCLs that takes into account recent genetic and biochemical advances. This short review commentary focuses on the NCLs which might cause symptoms in children from neonate to preschooler age: CLN10 (neonatal), CLN1 (6-48 months), CLN14 (8-24 months), CLN2 (1-6 years), CLN3 (4-7 years), CLN5 (4-6 years), CLN6 (18 months-8 years), CLN7 (2-7 years) and CLN8 (5-10 years). There is no fundamental therapy, but there is the trial of some cures.
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