Rispoli Marianna Gabriella, Di Stefano Vincenzo, Mantuano Elide, De Angelis Maria Vittoria
Department of Neuroscience, Imaging and Clinical Sciences, "G. d' annunzio" University, Chieti, Italy.
Department of Neuroscience, Imaging and Clinical Sciences, "G. d' annunzio" University, Chieti, Italy
BMJ Case Rep. 2019 Oct 5;12(10):e231129. doi: 10.1136/bcr-2019-231129.
Hemiplegic migraine (HM) is a rare subtype of migraine with aura in which attacks include transient motor weakness or hemiparesis that can last several days. HM is linked to mutations in three different genes, CACNA1A, ATP1A2 and SCN1A, which encode for ion transporters. The clinical spectrum includes atypical symptoms such as impaired consciousness, epileptic seizures, permanent cerebellar ataxia or mental retardation. We describe a novel mutation found in the ATP1A2 gene in a patient with late-onset HM. His attacks were characterised by motor weakness associated with altered mental status, diplopia and ataxia. He also showed up MRI abnormalities and incomplete response to prophylactic therapy with verapamil. Late-onset HM should be considered among the possible causes of focal neurological deficits even in older patients with cerebrovascular risk factors when a stroke appears to be more likely.
偏瘫性偏头痛（HM）是偏头痛伴先兆的一种罕见亚型，其发作包括可持续数天的短暂运动无力或偏瘫。HM与三种不同基因（CACNA1A、ATP1A2和SCN1A）的突变有关，这些基因编码离子转运体。临床谱包括意识障碍、癫痫发作、永久性小脑共济失调或智力迟钝等非典型症状。我们描述了一名迟发性HM患者中在ATP1A2基因发现的一种新突变。他的发作特点是伴有精神状态改变、复视和共济失调的运动无力。他还出现了MRI异常，并且对维拉帕米预防性治疗反应不完全。即使在有脑血管危险因素的老年患者中，当更可能发生中风时，迟发性HM也应被视为局灶性神经功能缺损的可能原因之一。
