Epilepsy Unit, Neurology Service, Hospital Universitari de Bellvitge, Spain.
Eur J Neurol. 2012 Jun;19(6):827-33. doi: 10.1111/j.1468-1331.2011.03609.x. Epub 2012 Feb 21.
High levels of glutamic acid decarboxylase (GAD)-ab were initially described in patients with stiff person syndrome, and have since also been observed in patients with other neurological diseases. Temporal lobe epilepsy (TLE) seems to be specially associated. Our purpose is to describe the prevalence of GAD-ab in patients with TLE, and to characterize the clinical-immunological profile of TLE patients with high levels of GAD-ab.
An immunological profile including GAD-ab and antinuclear, anti-DNA, anti-cardiolipin, anti-transglutaminase and antithyroid antibodies was determined in a consecutive series of patients with TLE. As adulthood onset is the least common onset in TLE + hipocampal sclerosis and febrile seizures, we selected patients whose onset was after 30 years of age, to expand the spectrum of aetiologies. Patients were divided into two groups: known aetiology, 19 patients (45%) and unknown aetiology, 23 (55%). The clinical-immunological study included TLE patients with high GAD-ab levels (>1000 IU).
Amongst 42 patients, serum GAD-ab levels were positive in 5 (152-11, 963 IU/ml), all from the unknown aetiology group. Thus, GAD-ab levels were positive in 21.7% and high in 8.7% of the unknown aetiology group. The immunological profile study included nine patients (seven pharmacoresistant), of whom six were women (66%) with mean age 41 years. Three patients reported acute debut, four (44%) insulin-dependent diabetes mellitus, five (55%) other concomitant autoimmune diseases, four (44%) memory impairment and four moderate-to-severe mood disturbance. Intrathecal synthesis of GAD-ab was observed in seven patients (77%).
Temporal lobe epilepsy with GAD-ab is not a rare condition. In the subgroup of patients with high titres, this epilepsy is often pharmacoresistant and associated with memory impairment, depression and other autoimmune diseases.
最初在僵人综合征患者中发现谷氨酸脱羧酶(GAD)-ab 水平升高,此后也在其他神经疾病患者中观察到。颞叶癫痫(TLE)似乎与该情况特别相关。我们的目的是描述 TLE 患者中 GAD-ab 的患病率,并描述 GAD-ab 水平升高的 TLE 患者的临床免疫特征。
我们对一系列连续的 TLE 患者进行了免疫特征分析,包括 GAD-ab 以及抗核、抗 DNA、抗心磷脂、抗转谷氨酰胺酶和抗甲状腺抗体。由于成年人发病是 TLE 伴海马硬化和热性惊厥中最不常见的发病类型,我们选择了发病年龄大于 30 岁的患者,以扩展病因谱。患者分为两组:已知病因 19 例(45%)和未知病因 23 例(55%)。临床免疫研究包括 GAD-ab 水平升高(>1000 IU)的 TLE 患者。
在 42 例患者中,有 5 例(152-11,963 IU/ml)血清 GAD-ab 水平阳性,均来自未知病因组。因此,未知病因组中 GAD-ab 水平阳性的比例为 21.7%,高水平的比例为 8.7%。免疫特征研究纳入了 9 例患者(7 例为药物难治性),其中 6 例为女性(66%),平均年龄为 41 岁。3 例患者有急性发病,4 例(44%)为胰岛素依赖性糖尿病,5 例(55%)存在其他自身免疫性疾病,4 例(44%)存在记忆障碍,4 例有中度至重度情绪障碍。7 例患者(77%)存在鞘内 GAD-ab 合成。
伴 GAD-ab 的颞叶癫痫并不罕见。在高水平抗体滴度的亚组中,这种癫痫往往药物难治,与记忆障碍、抑郁和其他自身免疫性疾病相关。