Papiashvili Nikoloz, Gagua Sopio, Gonjilashvili Nana, Okujava Natela, Tsereteli Aleksandre
American MD Program, Tbilisi State Medical University, 33 Vazha-Pshavela Ave, 0186 Tbilisi, Georgia.
Epilepsy and Sleep Centre, S. Khechinashvili University Hospital, 33 Chavchavadze Ave, 0179 Tbilisi, Georgia.
Epilepsy Behav Rep. 2025 Jul 10;32:100805. doi: 10.1016/j.ebr.2025.100805. eCollection 2025 Dec.
Progressive myoclonic epilepsies (PMEs) are a diverse group of neurodegenerative disorders characterized by myoclonus, seizures, and progressive cognitive and motor decline. This report presents a case of a subtype of PME, autosomal dominant Kufs disease (NCL type 4) documented for the first time outside of North America or Western Europe. The patient had a six-year history of progressive epilepsy that was resistant to pharmacotherapy, followed by myoclonus, cerebellar dysfunction, and cognitive deterioration. The patient's family history revealed a similar syndrome in the mother, who passed away seven years after the onset of the disease. Genetic testing identified the heterozygous pathogenic variant NM_025219.2:c.344T > G (p.Leu115Arg) in the DNAJC5 gene. This case report broadens the geographic distribution of NCL type 4 and calls attention to the multifaceted diagnostic challenges posed by the condition.
进行性肌阵挛癫痫（PMEs）是一组多样的神经退行性疾病，其特征为肌阵挛、癫痫发作以及进行性认知和运动功能衰退。本报告介绍了一例PME亚型——常染色体显性遗传性库夫斯病（NCL 4型），这是北美或西欧以外首次记录的病例。该患者有6年进行性癫痫病史，药物治疗无效，随后出现肌阵挛、小脑功能障碍和认知恶化。患者家族史显示其母亲也有类似综合征，在疾病发作7年后去世。基因检测在DNAJC5基因中鉴定出杂合致病性变异NM_025219.2:c.344T>G（p.Leu115Arg）。本病例报告拓宽了NCL 4型的地理分布范围，并提醒人们注意该疾病带来的多方面诊断挑战。
