一种新型 KCNQ2 变异在伴有震颤综合征患者中的发现。
A Novel KCNQ2 Variant in a Patient with a Combined Tremor Syndrome.
机构信息
IRCCS Neuromed, Pozzilli (IS), Italy.
Department of Human Neurosciences, Sapienza University of Rome, Italy.
出版信息
Tremor Other Hyperkinet Mov (N Y). 2024 May 9;14:24. doi: 10.5334/tohm.887. eCollection 2024.
BACKGROUND
Tremor disorders have various genetic causes.
CASE REPORT
A 60-year-old female with a family history of tremor presented a combined tremor syndrome, transient episodes of loss of contact and speech disturbances, as well as distal painful symptoms. Genetic screening revealed a novel heterozygous missense variant in the KCNQ2 gene.
DISCUSSION
The KCNQ2 protein regulates action potential firing, and mutations in its gene are associated with epilepsy and neuropathic pain. The identified variant, although of uncertain significance, may disrupt KCNQ2 function and also play a role in tremor pathogenesis. This case highlights the importance of genetic screening in combined tremor disorders.
背景
震颤障碍有多种遗传原因。
病例报告
一名 60 岁女性，有震颤家族史，表现为混合性震颤综合征，短暂的失联和言语障碍，以及远端疼痛症状。基因筛查显示 KCNQ2 基因中存在一种新的杂合错义变异。
讨论
KCNQ2 蛋白调节动作电位的发放，其基因突变与癫痫和神经病理性疼痛有关。虽然该变异的意义不确定，但可能破坏 KCNQ2 功能，也可能在震颤发病机制中发挥作用。该病例强调了在混合性震颤障碍中进行基因筛查的重要性。
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