The electrophysiological footprint of CACNA1A disorders.
The electrophysiological footprint of CACNA1A disorders.
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DOI：
10.1007/s00415-021-10415-x
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发表时间：
2021-07
影响因子：
6
通讯作者：
Boesch S
中科院分区：
文献类型：
--
作者：
Indelicato E;Unterberger I;Nachbauer W;Eigentler A;Amprosi M;Zeiner F;Haberlandt E;Kaml M;Gizewski E;Boesch S
CACNA1A 变异是三种神经系统疾病的基础：家族性偏瘫性偏头痛 1 型 (FHM1)、阵发性共济失调 2 型 (EA2) 和脊髓小脑性共济失调 6 型 (SCA6)。脑电图被用来研究它们的发作性表现，但间歇期的发现迄今为止并未引起人们的关注。我们分析了 1994 年至 2019 年间对一大群基因确诊的 CACNA1A 患者进行的重复脑电图记录。将 EEG 结果与 CACNA1A 阴性表型的结果进行比较。对相关文献进行了回顾。分析了 38 名患者的 85 份 EEG 记录（19 EA2、14 FHM1、5 SCA6）。 55% 的病例基线脑电图异常（12 例 EA2，9 例 FHM1）。最常见的发现是一侧间歇性减慢，主要影响颞区。最近一次发作后，速度减慢更为明显，但在随访期间，大多数患者也始终检测到速度减慢。在 8 名患者（7 名 EA2，1 名 FHM1）中检测到发作间期癫痫放电 (IED)。脑电图异常，尤其是简易爆炸装置，与检查时的年龄较小（无癫痫变化的患者为 16±±9 岁 vs 43±±21 岁，p=±0.003）以及发病较早（1 (1–2) 岁 vs 12 (5–45) 岁，p=±0.0009）显着相关。 CACNA1A 阴性表型 (n = 15) 的 EEG 结果基本上不显着（与 CACNA1A 患者相比，p = 0.03）。发作之间的脑电图异常在阵发性 CACNA1A 疾病中非常普遍，尤其与检查时年龄较小和疾病发病较早有关。我们的研究结果支持了 CACNA1A 变体的年龄依赖性效应，当 P/Q 通道功能障碍在生命早期出现时，其损害会更严重。
CACNA1A variants underlie three neurological disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). EEG is applied to study their episodic manifestations, but findings in the intervals did not gain attention up to date. We analyzed repeated EEG recordings performed between 1994 and 2019 in a large cohort of genetically confirmed CACNA1A patients. EEG findings were compared with those of CACNA1A-negative phenocopies. A review of the related literature was performed. 85 EEG recordings from 38 patients (19 EA2, 14 FHM1, 5 SCA6) were analyzed. Baseline EEG was abnormal in 55% of cases (12 EA2, 9 FHM1). The most common finding was a lateralized intermittent slowing, mainly affecting the temporal region. Slowing was more pronounced after a recent attack but was consistently detected in the majority of patients also during the follow-up. Interictal epileptic discharges (IEDs) were detected in eight patients (7 EA2,1 FHM1). EEG abnormalities and especially IEDs were significantly associated with younger age at examination (16 ± 9 vs 43 ± 21 years in those without epileptic changes, p = 0.003) and with earlier onset of disease (1 (1–2) vs 12 (5–45) years, p = 0.0009). EEG findings in CACNA1A-negative phenocopies (n = 15) were largely unremarkable (p = 0.03 in the comparison with CACNA1A patients). EEG abnormalities between attacks are highly prevalent in episodic CACNA1A disorders and especially associated with younger age at examination and earlier disease onset. Our findings underpin an age-dependent effect of CACNA1A variants, with a more severe impairment when P/Q channel dysfunction manifests early in life.
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影响因子：
4.9
作者：
Debiais, S.;Hommet, C.;Autret, A.
通讯作者：
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作者：
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作者：
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作者：
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Wessman, M