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GBA1基因突变帕金森病1例报告

GBA1 Thr408Met mutation in a patient with Parkinson’s disease

  • 摘要: GBA1基因突变是帕金森病(Parkinson’s disease,PD)发生的重要遗传危险因素。本文报道1例43岁男性PD患者,全外显子组测序显示GBA1基因罕见Thr408Met杂合突变,诊断为GBA1基因突变PD。患者的运动症状以运动迟缓和肌强直为主,无明显认知功能下降,接受小剂量左旋多巴联合多巴胺受体激动剂治疗后症状明显改善。

     

    Abstract: GBA1 gene mutation is an important genetic risk factor for Parkinson’s disease (PD). This paper reports a case of a 43-year-old male PD patient carrying a rare heterozygous Thr408Met mutation in the GBA1 gene identified through whole-exome sequencing, leading to a diagnosis of GBA1-associated PD. The patient’s motor symptoms were primarily characterized by bradykinesia and rigidity, without significant cognitive decline. Treatment with low-dose levodopa combined with a dopamine agonist resulted in significant symptomatic improvement.

     

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