Neuronal ceroid lipofuscinoses

被引：84
作者：
Nita, Dragos A. [1 ,2 ]
Mole, Sara E. [3 ,4 ]
Minassian, Berge A. [1 ,2 ]
机构：
[1] Univ Toronto, Hosp Sick Children, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
[2] Sick Kids Res Inst, Ctr Brain & Mental Hlth, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
[3] UCL, MRC Lab Mol Cell Biol, UCL Inst Child Hlth, London, England
[4] UCL, Dept Genet Evolut & Environm, London, England
来源：
EPILEPTIC DISORDERS | 2016年 / 18卷
关键词：
Haltia-Santavuori; Jansky-Bielschowsky; Batten; Spielmeyer; progressive myoclonus epilepsies; PALMITOYL-PROTEIN THIOESTERASE-1; ENZYME REPLACEMENT THERAPY; JUVENILE BATTEN-DISEASE; CATHEPSIN-D DEFICIENCY; LATE-INFANTILE; CLINICAL-PICTURES; LYSOSOMAL PH; CLN3; PROTEIN; MOUSE MODEL; MUTATIONS;
D O I：
10.1684/epd.2016.0844
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL result from the excessive accumulation of neuronal and extraneuronal lipopigments, despite having diverse underlying biochemical aetiologies. Here we review the clinical presentation, pathophysiology and genetics of these conditions as well as the approach to diagnosis and management.
引用
收藏
页码：S73 / S88
页数：16
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