Dravet syndrome and parkinsonism
Dravet syndrome and parkinsonism
复制标题
Dravet 综合征和帕金森病
作者：
L. Deuel;A. Collins;E. Maa;Jessica P Barr;Drew S Kern
Dravet综合征是一种严重的儿童期发作的癫痫性脑病，其特征是热性惊厥进展为耐药性癫痫。许多病例与SCN 1A基因中的杂合性功能丧失突变有关，该基因编码电压门控钠通道的α亚基。1预期寿命显著缩短，癫痫持续状态和癫痫中原因不明的猝死是最常见的死亡原因。2因此，描述Dravet综合征进入成年期的自然史的研究很少。随着这些患者年龄的增长，其他神经系统症状也被认识到，包括共济失调、步态障碍、前倾和帕金森综合征，其中最后一种可能是左旋多巴反应性的。
Dravet syndrome is a severe, childhood-onset epileptic encephalopathy characterized by febrile seizures progressing to pharmacoresistant epilepsy. Many cases are linked to a heterozygous loss-of-function mutation in the SCN1A gene, which codes for an alpha subunit of the voltage-gated sodium channel.1 Life expectancy is dramatically shortened, with status epilepticus and sudden unexplained death in epilepsy the most frequent causes of death.2 Consequently, studies describing the natural history of Dravet syndrome into adulthood are rare. Additional neurologic symptoms have been recognized as these patients age, including ataxia, gait impairment, anterocollis, and parkinsonism, the last of which may be levodopa-responsive.3,4 It remains unclear, however, what underlies the dopaminergic pathway dysfunction in individuals with Dravet syndrome.
影响因子：
2.5
作者：
Ding, Shengyuan;Wei, Wei;Zhou, Fu-Ming
通讯作者：
Zhou, Fu-Ming