神经元蜡样脂褐素沉着症
肌阵挛
进行性肌阵挛性癫痫
医学
疾病
癫痫
突变
痴呆
儿科
病理
遗传学
生物
精神科
基因
作者
Ajith Cherian,Divya K.P.,Naveen Kumar Paramasivan,Syam Krishnan
出处
期刊:Neurology
[Lippincott Williams & Wilkins]
日期:2021-04-20
卷期号:96 (21)
被引量:5
标识
DOI:10.1212/wnl.0000000000011997
摘要
Kufs disease (KD), adult neuronal ceroid lipofuscinosis (NCL), differs from its common childhood forms by its late onset and preserved vision and is subclassified based on phenotype as type A, manifesting as progressive myoclonus epilepsy (PME), and type B, manifesting as dementia with motor involvement.
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