AIM OF THE STUDY The aim of this study was to explore genetic findings and the phenotype in Polish patients with Unverricht-Lundborg disease (ULD). MATERIALS AND METHODS We retrospectively evaluated mutations in the cystatin B (CSTB) gene and clinical presentation in a cohort of patients with ULD. The study population consisted of 19 (14 males) patients with genetically confirmed disease. RESULTS Sixteen patients were homozygous for the expanded dodecamer repeat mutation alleles, one subject was compound heterozygous for the dodecamer repeat expansion and other mutation, in two, the type of mutation has not yet been established. The numbers of repeats in the CSTB gene varied from 60 to 81. Clinical information was available for 16 subjects. The disease course was progressive in all patients, leading to severe disability, mainly due to myoclonus, in nine. CONCLUSIONS AND CLINICAL IMPLICATIONS Genetic findings and the clinical picture of our patients with ULD were in accordance with available studies. The most common genetic defect underlying ULD was homozygosity for an unstable expansion of a dodecamer repeat in the CSTB gene. Patients with action or/and stimulus sensitive myoclonus or intractable myoclonus epilepsy, especially with onset in late childhood/adolescence should be screened for ULD.

中文翻译：

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波兰 Unverricht-Lundborg 病 (EPM1) 患者的基因检测和表型 — 一项队列研究

研究目的 本研究的目的是探讨波兰 Unverricht-Lundborg 病 (ULD) 患者的遗传发现和表型。材料和方法 我们回顾性评估了 ULD 患者队列中胱抑素 B (CSTB) 基因的突变和临床表现。研究人群包括 19 名（14 名男性）患有遗传确诊疾病的患者。结果 16例患者为扩增的十二聚体重复突变等位基因纯合子，1例为十二聚体重复扩增和其他突变的复合杂合子，2例突变类型尚未确定。CSTB 基因中的重复次数从 60 到 81 不等。有 16 名受试者的临床信息可用。所有患者的病程都是进行性的，导致严重的残疾，主要是由于肌阵挛，在九。结论和临床意义 我们的 ULD 患者的遗传发现和临床表现与现有研究一致。ULD 最常见的遗传缺陷是 CSTB 基因中十二聚体重复序列不稳定扩增的纯合性。对动作或/和刺激敏感的肌阵挛或顽固性肌阵挛癫痫患者，尤其是在儿童晚期/青春期发病的患者，应进行 ULD 筛查。