痉挛性截瘫7型患者中[18F]FDG-PET显示轻微代谢减低，但[123I]FP-CIT SPECT结合缺失
Subtle hypometabolism on [18F]FDG-PET, yet absent [123I]FP-CIT SPECT binding in a patient with spastic paraplegia type 7.
文献信息
| PMID | 42804092 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Dylan Henssen |
| 作者单位 | Department of Medical Imaging, Radboud University Medical Center, Nijmegen, The Netherlands. dylan.henssen@radboudumc.nl. |
| 期刊 | EJNMMI reports |
| SCI 分区 | Q3 |
| IF | 1.7 |
| 研究类型 | 临床研究 · 临床 |
| 所属专科 | 耳科 |
中文摘要
核医学神经影像在帕金森病、非典型帕金森综合征及更罕见神经系统（运动）疾病的诊断和鉴别诊断中日益重要。我们报告一名46岁女性，表现为频繁跌倒、逐渐进展的双锥体综合征伴步态共济失调、吞咽困难、尿急和尿失禁、情绪低落伴情绪调节障碍以及轻度不对称性运动减少-强直综合征。此外，她有视力模糊、不对称性上睑下垂和垂直扫视异常。脑[18F]FDG PET/CT显示非特异性区域皮质代谢减低模式，且纹状体代谢减低更为明显。[123I]FP-CIT SPECT显示靶向结合完全缺失。随后的基因检测发现SPG7的两个变异。患者对左旋多巴显示出适度良好反应。本病例说明SPG7中存在突触前多巴胺能黑质纹状体神经元的显著神经变性。
英文摘要
Nuclear medicine neuroimaging is becoming increasingly important for the diagnosis and differential diagnosis of Parkinson's disease, atypical parkinsonian syndromes and more rare neurological (movement) disorders. We report on a 46-year-old woman presented with frequent falls, a gradually progressive bipyramidal syndrome with gait ataxia, dysphagia, urinary urgency and -incontinence, low mood with disturbed emotional regulation and a mild asymmetric hypokinetic rigid syndrome. Additionally, she had a blurry vision, asymmetrical ptosis and abnormal vertical saccades. [18F]FDG PET/CT of the brain showed unspecific pattern of regional cortical hypometabolism and, more pronounced, striatal hypometabolism. [123I]FP-CIT SPECT showed a complete absence of on-target binding. Subsequent genetic testing revealed two variants in SPG7. The patient showed a modest favourable response on levodopa. This case illustrates profound neurodegeneration of the presynaptic dopaminergic nigrostriatal neurons in SPG7.