早发性阿尔茨海默病伴早老素 1 突变（A434T）患者多巴反应性帕金森病。
Dopa Responsive Parkinsonism in an Early Onset Alzheimer's Disease Patient with a Presenilin 1 Mutation (A434T).
机构信息
Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Neuroscience Center, Samsung Medical Center, Seoul, Korea.
出版信息
J Alzheimers Dis. 2019;71(1):7-13. doi: 10.3233/JAD-190469.
Alzheimer's disease patients with presenilin 1 (PSEN1) mutations commonly show parkinsonism in addition to dementia. Yet, whether these patients show dopaminergic deficit and response to L-dopa is largely unknown. We report a 43-year-old woman with a PSEN1 mutation (A434T) who showed right side dominant parkinsonism. As disease progressed, she developed bilateral parkinsonism which was markedly relieved by L-dopa. Amyloid (Florbetaben) positron-emission tomography (PET) showed cortical florbetaben uptake, relatively sparing the striatum. Initial dopamine transporter (FP-CIT) PET showed asymmetrically decreased FP-CIT uptake in the left striatum. We suggest that in Alzheimer's disease patients with PSEN1 mutation, parkinsonism may be relieved by L-dopa when it is associated with presynaptic dopaminergic deficit.
早发型阿尔茨海默病患者常伴有帕金森病特征，除了痴呆。然而，这些患者是否存在多巴胺能缺陷以及对 L-多巴的反应仍不清楚。我们报告了一例携带早发型阿尔茨海默病 PSEN1 突变（A434T）的 43 岁女性，表现为右侧优势型帕金森病。随着疾病的进展，她出现了双侧帕金森病，L-多巴治疗后明显缓解。淀粉样蛋白（Florbetaben）正电子发射断层扫描（PET）显示皮质 Florbetaben 摄取，纹状体相对保留。多巴胺转运体（FP-CIT）PET 显示左侧纹状体的 FP-CIT 摄取不对称性减少。我们认为，在 PSEN1 突变的早发型阿尔茨海默病患者中，当帕金森病与突触前多巴胺能缺陷相关时，L-多巴可能会缓解帕金森病。
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