British Columbia Children's Hospital, Canada.
Cephalalgia. 2011 Nov;31(15):1580-6. doi: 10.1177/0333102411420584. Epub 2011 Oct 19.
Serotonin has an important role in vascular resistance and blood pressure control, and a functional serotonin transporter polymorphism has been associated with migraine. Disturbances in serotonin metabolism have been associated with autism, depression, and myoclonus related conditions, but serotonin has far more functions in the body. Familial hemiplegic migraine is a rare autosomal dominant subtype of migraine with aura in which attacks are associated with hemiparesis.
We present two siblings with hemiplegic migraine, depression, progressive spastic paraparesis, myelopathy, and spinal cord atrophy. One of the sisters presented with prolonged coma after a migraine episode. Both sisters were found to have low cerebrospinal fluid serotonin metabolite (5-hydroxyindoleacetic acid), low platelet serotonin levels, and diminished serotonin transport capacity. Their clinical symptoms improved on 5-hydroxytryptophan replacement therapy. Mutational analysis of the CACNA1A and ATP1A2 genes was negative.
This is the first time that systemic serotonin deficiency has been described in familial hemiplegic migraine. We hypothesize that the deficiency of serotonin transport may be part of a complex cellular membrane trafficking dysfunction involving not only the serotonin transporter but also other transporters and ion channels.
血清素在血管阻力和血压控制中起着重要作用，一种功能性血清素转运体多态性与偏头痛有关。血清素代谢紊乱与自闭症、抑郁症和肌阵挛相关疾病有关，但血清素在体内的功能远不止于此。家族性偏瘫性偏头痛是一种罕见的常染色体显性偏头痛亚型，伴有先兆的偏头痛发作与偏瘫有关。
我们介绍了两位患有偏瘫性偏头痛、抑郁症、进行性痉挛性截瘫、脊髓病和脊髓萎缩的兄弟姐妹。其中一位姐妹在偏头痛发作后出现长时间昏迷。两位姐妹的脑脊液血清素代谢物（5-羟色氨酸乙酸）、血小板血清素水平和血清素转运能力均降低。他们的临床症状在接受 5-羟色氨酸替代治疗后得到改善。CACNA1A 和 ATP1A2 基因的突变分析结果为阴性。
这是首次在家族性偏瘫性偏头痛中描述系统性血清素缺乏。我们假设血清素转运体的缺乏可能是一种复杂的细胞膜运输功能障碍的一部分，不仅涉及血清素转运体，还涉及其他转运体和离子通道。
