Roth Christian, Freilinger Tobias, Kirovski Georgi, Dunkel Juliane, Shah Yogesh, Wilken Bernd, Rautenstrauß Bernd, Ferbert Andreas
Department of Neurology, Klinikum Kassel, Germany.
Cephalalgia. 2014 Mar;34(3):183-90. doi: 10.1177/0333102413506128. Epub 2013 Oct 4.
Familial hemiplegic migraine (FHM) is a rare subtype of migraine with transient hemiplegic aura.
We describe three unrelated families with familial hemiplegic migraine type II (FHM2). Retrospectively, information on 47 family members could be obtained, 15 by personal examination and 32 by indirect anamnesis from relatives. Genetic analyses were performed in 13 patients.
One family had a novel missense mutation in the ATP1A2 gene (c.659C>T, p.Ser220Leu) that segregated with the phenotype in three generations. Two further unrelated families with different ethnic backgrounds (one from Germany and one from Russia) had a missense mutation that has not been described as yet in FHM, but occurred in only a single patient with sporadic hemiplegic migraine (c.2723G>A, p.Arg908Gln). Clinically the patients had severe attacks lasting up to several weeks as well as epileptic seizures. Three patients with a proven mutation in the ATP1A2 gene clinically presented without hemiparesis. Furthermore, there was a possible relation of FHM2 to mental retardation in another two patients.
Clinical symptoms may last for several weeks in some patients. Patients with FHM2 may also present without hemiplegia. Therefore, the full family history has to be taken into account to establish the diagnosis of FHM.
家族性偏瘫性偏头痛（FHM）是偏头痛的一种罕见亚型，伴有短暂性偏瘫性先兆。
我们描述了三个患有II型家族性偏瘫性偏头痛（FHM2）的无血缘关系的家族。回顾性地，可获得47名家庭成员的信息，其中15名通过个人检查，32名通过亲属的间接问诊获得。对13名患者进行了基因分析。
一个家族在ATP1A2基因中存在一个新的错义突变（c.659C>T，p.Ser220Leu），该突变在三代人中与表型共分离。另外两个具有不同种族背景的无血缘关系的家族（一个来自德国，一个来自俄罗斯）有一个错义突变，该突变在FHM中尚未被描述，但仅发生在一名散发性偏瘫性偏头痛患者中（c.2723G>A，p.Arg908Gln）。临床上，患者有持续长达数周的严重发作以及癫痫发作。三名ATP1A2基因有确诊突变的患者临床上无偏瘫表现。此外，另外两名患者中FHM2与智力发育迟缓可能存在关联。
在一些患者中，临床症状可能持续数周。FHM2患者也可能无偏瘫表现。因此，为了确诊FHM，必须考虑完整的家族史。
