Institute of Neurology, Azienda Ospedaliero Universitaria di Cagliari, Cagliari, Italy.
Institute of Neurology, Azienda Ospedaliero Universitaria di Cagliari, Cagliari, Italy.
Epilepsy Behav. 2022 Aug;133:108783. doi: 10.1016/j.yebeh.2022.108783. Epub 2022 Jun 22.
C9orf72 mutation is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. Recently, several reports of patients with FTD who carried the C9orf72 mutation and also manifested epilepsy have been published, since seizures occur in FTD at a higher rate than in the general population, the possible association between epilepsy and C9orf72 mutation remains to be clarified. In the attempt to understand whether epilepsy contributes to the phenotype of the C9orf72 mutation, we compared epilepsy occurrence in patients with FTD who carried the C9orf72 mutation and those who did not. In our sample of 84 patients with FTD, 7.1% of cases reported epilepsy, with no significant differences between subsamples of patients with FTD stratified according to the presence of the C9orf72 mutation or to family history of FTD/parkinsonism/motor neuron disease. Our findings did not support to the possibility that epilepsy represents a characteristic feature of the C9orf72 mutation, as suggested by recent case reports published in the English literature.
C9orf72 突变是全世界最常见的额颞叶痴呆（FTD）和肌萎缩侧索硬化症（ALS）的遗传病因。最近，有几篇报道称，携带 C9orf72 突变的 FTD 患者也表现出癫痫，因为癫痫在 FTD 中的发生率高于普通人群，癫痫与 C9orf72 突变之间的可能关联仍需澄清。为了了解癫痫是否导致 C9orf72 突变的表型，我们比较了携带 C9orf72 突变和不携带该突变的 FTD 患者中癫痫的发生情况。在我们的 84 例 FTD 患者样本中，有 7.1%的病例报告有癫痫，根据是否存在 C9orf72 突变或 FTD/帕金森病/运动神经元病的家族史对 FTD 患者进行分层，各亚组之间无显著差异。我们的发现不支持癫痫是 C9orf72 突变特征的可能性，这与最近发表在英文文献中的病例报告的结果一致。
