Murphy Olwen C, Merwick Aine, OʼMahony Olivia, Ryan Aisling M, McNamara Brian
Departments of Neurology, Cork University Hospital, Cork, Ireland.
Department of Neurology, Chelsea and Westminster Hospital, NHS Foundation Trust, London, United Kingdom.
J Clin Neurophysiol. 2018 Jan;35(1):e3-e7. doi: 10.1097/WNP.0000000000000387.
Familial hemiplegic migraine (FHM) is a genetic disease with a variable clinical phenotype. The imaging and electroencephalogram (EEG) correlates of FHM are not well described.
We describe a case series of five young women aged 12 to 32 years. Each case presented with headache, encephalopathy, and hemiparesis of varying severity. One patient developed seizures. All patients improved spontaneously.
Asymmetric slow-wave activity was seen on electroencephalogram in each case. One patient developed marked unilateral cortical edema on MR imaging. Cerebro-spinal fluid (CSF) studies were normal for all patients. Genetic testing in each case showed a mutation of the ATP1A2 gene. One of the mutations identified is a novel mutation.
Genetic mutation of the ATP1A2 gene results in a channelopathy which is thought to predispose to spreading depolarization, the probable physiologic correlate of migraine aura. We hypothesize that widespread prolonged depolarization accounts for the characteristic electroencephalogram findings in these cases. Familial hemiplegic migraine should be considered in the differential diagnosis of an asymmetric encephalopathy, particularly when CSF and imaging studies are normal.
家族性偏瘫性偏头痛（FHM）是一种临床表型多样的遗传性疾病。FHM的影像学和脑电图（EEG）相关性尚未得到充分描述。
我们描述了一组5例年龄在12至32岁之间的年轻女性病例。每个病例都表现出不同程度的头痛、脑病和偏瘫。1例患者出现癫痫发作。所有患者均自发好转。
每个病例的脑电图均显示不对称慢波活动。1例患者在磁共振成像上出现明显的单侧皮质水肿。所有患者的脑脊液（CSF）检查均正常。每个病例的基因检测均显示ATP1A2基因突变。所鉴定的突变之一是新突变。
ATP1A2基因的基因突变导致一种离子通道病，据认为这种疾病易引发扩散性去极化，而扩散性去极化可能是偏头痛先兆的生理相关因素。我们推测广泛的长时间去极化是这些病例中特征性脑电图表现的原因。在不对称性脑病的鉴别诊断中应考虑家族性偏瘫性偏头痛，尤其是当脑脊液和影像学检查正常时。
