Curtain Robert P, Smith Robert L, Ovcaric Mick, Griffiths Lyn R
Genomics Research Centre, School of Medical Science, Griffith University, Gold Coast, Queensland, Australia.
Pediatr Neurol. 2006 Apr;34(4):329-32. doi: 10.1016/j.pediatrneurol.2005.08.033.
Familial hemiplegic migraine is a severe, rare subtype of migraine. Gene mutations on chromosome 19 have been identified in the calcium channel, voltage-dependent, P/Q type, alpha-1A subunit gene (chromosome 19p13) for familial hemiplegic migraine. Recently a gene mutation (Serine-218-Leucine) for a dramatic syndrome associated with familial hemiplegic migraine, commonly named "migraine coma", has implicated exon 5 of this gene. The occurrence of trivial head trauma, in such familial hemiplegic migraine patients, may also be complicated by severe, sometimes even fatal, cerebral edema and coma occurring after a lucid interval. Sporadic hemiplegic migraine shares a similar spectrum of clinical presentation and genetic heterogeneity. The case report presented in this article implicates the involvement of the Serine-218-Leucine mutation in the extremely rare disorder of minor head trauma-induced migraine coma. We conclude that the Serine-218-Leucine mutation in the calcium channel, voltage-dependent, P/Q type, alpha-1A subunit gene is involved in sporadic hemiplegic migraine, delayed cerebral edema and coma after minor head trauma.
家族性偏瘫性偏头痛是偏头痛的一种严重且罕见的亚型。已在19号染色体上的电压依赖性P/Q型钙通道α-1A亚基基因(19p13染色体)中鉴定出与家族性偏瘫性偏头痛相关的基因突变。最近,一种与家族性偏瘫性偏头痛相关的严重综合征(通常称为“偏头痛昏迷”)的基因突变(丝氨酸218-亮氨酸)涉及该基因的第5外显子。在这类家族性偏瘫性偏头痛患者中,轻微头部外伤的发生也可能在清醒期后并发严重的、有时甚至是致命的脑水肿和昏迷。散发性偏瘫性偏头痛具有相似的临床表现谱和遗传异质性。本文所呈现的病例报告表明,丝氨酸218-亮氨酸突变与轻微头部外伤诱发的偏头痛昏迷这一极其罕见的疾病有关。我们得出结论,电压依赖性P/Q型钙通道α-1A亚基基因中的丝氨酸218-亮氨酸突变与散发性偏瘫性偏头痛、轻微头部外伤后延迟性脑水肿和昏迷有关。