Lafora diseaseEpidemiology, pathophysiology and management

被引:0
|
作者
Thomas S. Monaghan
Norman Delanty
机构
[1] Beaumont Hospital and Royal College of Surgeons in Ireland,Epilepsy Programme and Consultant Neurologist, Department of Neurology and Neuroscience
来源
CNS Drugs | 2010年 / 24卷
关键词
Vigabatrin; Ketogenic Diet; Zonisamide; Piracetam; Neuronal Ceroid Lipofuscinoses;
D O I
暂无
中图分类号
学科分类号
摘要
Lafora disease is a rare, fatal, autosomal recessive, progressive myoclonic epilepsy. It may also be considered as a disorder of carbohydrate metabolism because of the formation of polyglucosan inclusion bodies in neural and other tissues due to abnormalities of the proteins laforin or malin. The condition is characterized by epilepsy, myoclonus and dementia. Diagnostic findings on MRI and neurophysiological testing are not definitive and biopsy or genetic studies may be required. Therapy in Lafora disease is currently limited to symptomatic management of the epilepsy, myoclonus and intercurrent complications. With a greater understanding of the pathophysiological processes involved, there is justified hope for future therapies.
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收藏
页码:549 / 561
页数:12
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