Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis.
Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis.
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DOI：
10.1111/dmcn.12634
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发表时间：
2015-04
影响因子：
3.8
通讯作者：
Batten Study Group
中科院分区：
文献类型：
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作者：
Augustine EF;Adams HR;Beck CA;Vierhile A;Kwon J;Rothberg PG;Marshall F;Block R;Dolan J;Mink JW;Batten Study Group
评估青少年神经元蜡样质脂褐质沉积症（JNCL）患者的癫痫发作现象、治疗和病程。使用横断面和纵向方法分析了正在进行的JNCL自然史研究的数据。采用统一Batten疾病评定量表（一种疾病特异性定量评估工具）评估癫痫发作。86名儿童（44名男性，42名女性）与JNCL进行了评估，平均每年三次访问（范围1- 11岁）。86%（n=74）的患者至少发生过一次癫痫发作，最常见的是全身强直阵挛性发作，平均发病年龄为9岁7个月（SD 2岁10个月）。癫痫发作不常见，通常每3个月发生一次，大多数参与者用一到两种药物进行管理。丙戊酸盐（49%，n=36）和左乙拉西坦（41%，n=30）是最常用的癫痫发作药物。肌阵挛性癫痫发作很少发生（16%，n=14）。癫痫发作的严重程度没有因性别或基因型而异。随着年龄的增长，癫痫发作表现出轻度恶化。神经元蜡样质脂褐质沉积症（NCL）代表了一组由神经变性和失明、癫痫发作、运动障碍和痴呆症状统一的疾病。虽然NCL被认为是进行性肌阵挛癫痫的鉴别诊断，我们表明，肌阵挛发作是罕见的JNCL。这突出了NCL由具有不同自然史的遗传上不同的疾病组成。
To evaluate seizure phenomenology, treatment, and course in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL). Data from an ongoing natural history study of JNCL were analyzed using cross-sectional and longitudinal methods. Seizures were evaluated with the Unified Batten Disease Rating Scale, a disease-specific quantitative assessment tool. Eighty-six children (44 males, 42 females) with JNCL were assessed at an average of three annual visits (range 1–11y). Eighty-six percent (n=74) experienced at least one seizure, most commonly generalized tonic-clonic, with mean age at onset of 9 years 7 months (SD 2y 10mo). Seizures were infrequent, typically occurring less often than once every 3 months, and were managed with one to two medications for most participants. Valproate (49%, n=36) and levetiracetam (41%, n=30) were the most commonly used seizure medications. Myoclonic seizures occurred infrequently (16%, n=14). Seizure severity did not vary by sex or genotype. Seizures showed mild worsening with increasing age. The neuronal ceroid lipofuscinoses (NCLs) represent a group of disorders unified by neurodegeneration and symptoms of blindness, seizures, motor impairment, and dementia. While NCLs are considered in the differential diagnosis of progressive myoclonus epilepsy, we show that myoclonic seizures are infrequent in JNCL. This highlights the NCLs as consisting of genetically distinct disorders with differing natural history.