作者
Marc C Patterson, Christian J Hendriksz, Mark Walterfang, Frederic Sedel, Marie T Vanier, Frits Wijburg, NP-C Guidelines Working Group
发表日期
2012/7/1
期刊
Molecular genetics and metabolism
卷号
106
期号
3
页码范围
330-344
出版商
Academic Press
简介
Niemann–Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases), which lead to impaired intracellular lipid trafficking and accumulation of cholesterol and glycosphingolipids in the brain and other tissues. Characteristic neurological manifestations of NP-C include saccadic eye movement (SEM) abnormalities or vertical supranuclear gaze palsy (VSGP), cerebellar signs (ataxia, dystonia/dysmetria, dysarthria and dysphagia) and gelastic cataplexy. Epileptic seizures are also common in affected patients. Typically, neurological disease onset occurs during childhood, although an increasing number of cases are being detected and diagnosed during adulthood based on late-onset neurological signs and psychiatric manifestations. Categorization of patients according to age at onset of neurological …
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MC Patterson, CJ Hendriksz, M Walterfang, F Sedel… - Molecular genetics and metabolism, 2012