伴有PRRT2突变的家族性偏瘫性偏头痛：表型变异与卡马西平疗效
Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy.
作者信息
Suzuki-Muromoto Sato, Kosaki Rika, Kosaki Kenjiro, Kubota Masaya
机构信息
Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.
Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
出版信息
Brain Dev. 2020 Mar;42(3):293-297. doi: 10.1016/j.braindev.2019.12.007. Epub 2020 Jan 2.
OBJECTIVE
To understand the clinical characteristics of familial hemiplegic migraine (FHM) caused by a PRRT2 mutation and to examine the efficacy of preventive treatment.
METHODS
Using the literature, we investigated clinical details of FHM in 3 generations of patients with a PRRT2 mutation and compared them with those in 17 patients with the same mutation from 6 families.
RESULTS
In most of the affected patients, the onset was observed during the teen years. Complicated phenotypes tended to be shared in each family, and five patients showed spontaneous remission. With regard to treatment, low-dose carbamazepine (CBZ) was effective in three patients.
CONCLUSION
Considering the clinical features, we suggest that low-dose CBZ is efficacious for FHM treatment in patients with a PRRT2 mutation. The treatment duration should be carefully considered because some patients show spontaneous remission. More accumulated data from familial cases might help elucidate PRRT2 function and establish standard treatment for FHM.
目的
了解由PRRT2基因突变引起的家族性偏瘫性偏头痛（FHM）的临床特征，并检验预防性治疗的疗效。
方法
通过文献，我们调查了3代PRRT2基因突变患者的FHM临床细节，并将其与来自6个家庭的17名相同基因突变患者的临床细节进行比较。
结果
在大多数受影响患者中，发病于青少年时期。复杂表型往往在每个家族中都有出现，5名患者出现自发缓解。关于治疗，低剂量卡马西平（CBZ）对3名患者有效。
结论
考虑到临床特征，我们建议低剂量CBZ对PRRT2基因突变患者的FHM治疗有效。由于一些患者会出现自发缓解，因此应仔细考虑治疗持续时间。来自家族性病例的更多累积数据可能有助于阐明PRRT2的功能，并建立FHM的标准治疗方法。
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