Stubberud Anker, O'Connor Emer, Tronvik Erling, Houlden Henry, Matharu Manjit
Headache and Facial Pain Group, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Department of Neuromedicine and Movement Sciences, NTNU Norwegian University of Science and Technology, Trondheim, Norway.
Case Rep Neurol. 2021 Feb 16;13(1):123-130. doi: 10.1159/000512275. eCollection 2021 Jan-Apr.
Mutations in the gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the gene (c.4055G>A, p.R1352Q). The R1352Q variant shares the phenotype with other described mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.
该基因的突变表现出广泛的神经学表型，包括偏瘫性偏头痛、共济失调、智力迟钝和癫痫。在某些情况下，偏瘫性偏头痛发作可由轻微头部外伤引发，并最终导致脑病和脑水肿。一名37岁无复杂性偏头痛家族史的男性自童年起就经历偏瘫性偏头痛发作。发作通常由轻微头部外伤引发，并有几次并发脑病和脑水肿。对先证者及其未受影响的父母进行基因检测，发现该基因第25外显子存在一个新发杂合核苷酸错义突变（c.4055G>A，p.R1352Q）。R1352Q变异与其他已描述的该基因突变具有相同表型，并突出了外伤作为偏瘫性偏头痛诱发因素的有趣关联。对于由轻微头部损伤引发或与癫痫、共济失调或脑病发作相关的早发性散发性偏瘫性偏头痛患者，应进行基因突变筛查。还应建议这些患者避免可能导致头部外伤的活动，并且应考虑使用抗惊厥药作为偏头痛预防性治疗。
