Errichiello Luca, Perruolo Giuseppe, Pascarella Angelo, Formisano Pietro, Minetti Carlo, Striano Salvatore, Zara Federico, Striano Pasquale
Epilepsy Center, Department of Neurological Sciences, "Federico II" University, Napoli, Italy.
J Neuroimmunol. 2009 Jun 25;211(1-2):120-3. doi: 10.1016/j.jneuroim.2009.04.010. Epub 2009 May 9.
Autoantibodies to glutamic acid decarboxylase (GADA) have been associated to a wide range of neurologic conditions, including epilepsy. However, the spectrum of epileptic conditions associated with GADA is not completely established. We aimed to determine the occurrence of GADA in a large series of patients with different epilepsy types. Moreover, we assessed whether specific subgroups of patients are associated to GAD autoimmunity.
GADA were measured by radioimmunoassay in a series of consecutive unselected epileptic patients observed over a 2-years-period. Patients with neuromuscular features, acute or subacute encephalopathic course, cognitive deterioration or psychiatric symptoms were excluded.
Two hundred thirty-three patients (121 women, mean age: 29.3 years; range: 6-78) were recruited. There were eighty-three (35.6%) patients with idiopathic (66 generalized, 17 focal) epilepsy; fifty-nine (25.3%) with cryptogenic (52 focal, 7 generalized) epilepsy, and ninety-one (39.0%) with symptomatic (75 focal, 16 generalized) epilepsy. GADA were detected in six (2.58%) patients. Two had idiopathic generalized epilepsy associated with diabetes mellitus type 1 (DM1); the other four patients suffered from cryptogenic temporal epilepsy and no history or signs of DM1. GADA positive patients could not be distinguished by seizure frequency or number of AEDs. However, in these cases, the mean epilepsy duration (8.5+/-5.0 years) was shorter compared to the other 48 GADA-negative patients with cryptogenic focal epilepsy (17.3+/-9.6) (p<0.0001).
We confirm that GAD autoimmunity may be associated with some forms of epilepsy. The preferential identification in patients with cryptogenic temporal epilepsy deserves particularly further investigation.
谷氨酸脱羧酶（GADA）自身抗体与多种神经系统疾病相关，包括癫痫。然而，与GADA相关的癫痫疾病谱尚未完全明确。我们旨在确定大量不同癫痫类型患者中GADA的发生率。此外，我们评估了特定患者亚组是否与GAD自身免疫相关。
通过放射免疫分析法对连续2年观察的一系列未经选择的癫痫患者进行GADA检测。排除有神经肌肉特征、急性或亚急性脑病病程、认知功能减退或精神症状的患者。
共招募了233例患者（121例女性，平均年龄：29.3岁；范围：6 - 78岁）。其中83例（35.6%）为特发性癫痫（66例全身性、17例局灶性）；59例（25.3%）为隐源性癫痫（52例局灶性、7例全身性），91例（39.0%）为症状性癫痫（75例局灶性、16例全身性）。6例（2.58%）患者检测到GADA。2例患有与1型糖尿病（DM1）相关的特发性全身性癫痫；另外4例患有隐源性颞叶癫痫且无DM1病史或体征。GADA阳性患者无法通过癫痫发作频率或抗癫痫药物数量来区分。然而，在这些病例中，平均癫痫病程（8.5±5.0年）比其他48例GADA阴性的隐源性局灶性癫痫患者（17.3±9.6年）短（p<0.0001）。
我们证实GAD自身免疫可能与某些形式的癫痫有关。隐源性颞叶癫痫患者中这种情况的优先识别尤其值得进一步研究。
