Miao Pu, Ding Yao, Cen Zhidong, Chen Yulan, Luo Wei, Zhang Baorong, Wu Zhiying, Ding Meiping, Wang Shuang
Department of Pediatric, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009, China.
Department of Neurology, Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009, China.
Acta Epileptol. 2025 May 29;7(1):32. doi: 10.1186/s42494-025-00216-4.
Unverricht-Lundborg disease (ULD) is a rare autosomal recessive neurodegenerative disorder, often caused by biallelic promoter expansions of CSTB gene or, more rarely by point/indel variants. The best-known area for ULD are the shores of the Baltic and Mediterranean Sea and few cases have been recorded from Asia.
In this report, we present the first case of a Chinese patient with ULD. The patient was a 21-year-old female with normal cognitive function. She developed nocturnal bilateral tonic-clonic seizures (BTCS) at age 8, with subsequent onset of myoclonic jerks along with ataxia at age 12. Myoclonic jerks were triggered by flashing lights and during menstrual periods. EEG recording showed multifocal spikes and sharp-waves, predominantly in bilateral occipital regions. Genetic testing revealed heterozygous compound variants for a novel indel variant (c.116 - 117 delAG) and the repeat expansion of CSTB gene. The refractory BTCS and myoclonic jerks showed remarkable response to low-dose (2 mg/day) perampanel treatment. After 24 months of follow-up, the patient remained seizure-free, but her myoclonic jerks recurred, which could be reduced by increasing the dosage of perampanel.
To the best of our knowledge, this is the first report of ULD in the large Chinese population. By comparison with homozygous promoter expansions, we found an earlier age of first symptom onset and more refractory BTCS of ULD patients with compound or homozygous point/indel variants.
昂韦里希特-伦德伯格病（ULD）是一种罕见的常染色体隐性神经退行性疾病，通常由CSTB基因的双等位基因启动子扩增引起，或更罕见地由点突变/插入缺失变异引起。ULD最著名的发病地区是波罗的海和地中海沿岸，亚洲仅有少数病例记录。
在本报告中，我们介绍了首例中国ULD患者。该患者为一名21岁女性，认知功能正常。她8岁时出现夜间双侧强直阵挛发作（BTCS），12岁时出现肌阵挛抽搐并伴有共济失调。肌阵挛抽搐由闪光和月经期诱发。脑电图记录显示多灶性尖波和锐波，主要位于双侧枕叶区域。基因检测发现一个新的插入缺失变异（c.116 - 117 delAG）和CSTB基因重复扩增的杂合复合变异。难治性BTCS和肌阵挛抽搐对低剂量（2毫克/天）吡仑帕奈治疗有显著反应。经过24个月的随访，患者无癫痫发作，但肌阵挛抽搐复发，增加吡仑帕奈剂量可减轻。
据我们所知，这是中国大量人群中ULD的首例报告。通过与纯合启动子扩增比较，我们发现复合或纯合点突变/插入缺失变异的ULD患者首发症状出现年龄更早，BTCS更难治。
