Kahwagi Georges-Junior, Hubsch Cécile, Burglen Lydie, Brandel Jean-Philippe, Sangla Sophie, Desjardins Clément
Department of Neurology, Movement Disorders Unit, Hospital Foundation Adolphe de Rothschild, Paris, France.
Cerebellar Malformations and Congenital Diseases Reference Center and Neurogenetics Lab, Department of Genetics, Armand Trousseau Hospital, AP-HP. Sorbonne Université, Paris, France.
Clin Park Relat Disord. 2025 Mar 5;12:100314. doi: 10.1016/j.prdoa.2025.100314. eCollection 2025.
We report an adult-onset KMT2B-related dystonia with a two-stage evolution: focal cervical onset followed by rapid generalization. Whole genome sequencing identified a likely pathogenic KMT2B variant. Bi-pallidal deep brain stimulation led to an 83% motor improvement, highlighting its therapeutic potential in late-onset atypical two-stage evolution KMT2B-dystonia.
我们报告了一例成年起病的与KMT2B相关的肌张力障碍，其病程呈两阶段进展：最初为局灶性颈部起病，随后迅速泛化。全基因组测序鉴定出一个可能致病的KMT2B变异。双侧苍白球深部脑刺激导致运动功能改善83%，突显了其在晚发型非典型两阶段进展性KMT2B肌张力障碍中的治疗潜力。
