BACKGROUND Alexander disease is a rare neurological disease characterized by progressive spastic quadriparesis and bulbar palsy. Moreover, certain patients with adult-onset Alexander disease were often misdiagnosed as other neurodegenerative disorders. CASE PRESENTATION Herein, we report an adult a 58-year-old woman presented with typical parkinsonism with good levodopa-responsiveness. The patient's dopamine transporter scanning showed significant striatal depletion, while her brain magnetic resonance imaging revealed bilateral tadpole shape of medulla oblongata and bilateral high signal intensity at both cerebellar dentate nuclei in T2-weighted images, suggesting the possibility of a genetic disorder beyond Parkinson's disease. The patient's genetic test resulted in known pathogenic glial fibrillary acidic protein variant, indicating Alexander disease. CONCLUSION This unique case highlights genetically diagnosed Alexander disease may present with clinical Parkinson's disease.

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临床上表现为帕金森氏病的成年亚历山大疾病的病例报告：合并症与遗传易感性相关吗？

背景技术亚历山大病是一种罕见的神经系统疾病，其特征在于进行性痉挛性四肢瘫痪和延髓性麻痹。此外，某些患有成人亚历山大疾病的患者经常被误诊为其他神经退行性疾病。病例介绍在此，我们报道了一名58岁的成年人，她表现出典型的帕金森病，左旋多巴反应良好。患者的多巴胺转运蛋白扫描显示出明显的纹状体耗竭，而她的脑磁共振成像显示，T2加权图像中双侧t的形状为延髓和双侧高信号强度，提示存在帕金森氏病以外的遗传性疾病。患者的基因测试导致已知的致病性神经胶质纤维酸性蛋白变体，表明亚历山大病。结论该独特病例强调了经遗传学诊断的亚历山大病可能与临床帕金森氏病同时出现。