两名患有与C9ORF72重复扩增相关的额颞叶痴呆/肌萎缩侧索硬化症的兄弟姐妹的脑¹⁸F-FDG和¹¹C-PiB正电子发射断层显像结果
Brain ¹⁸F-FDG and ¹¹C-PiB PET findings in two siblings with FTD/ALS associated with the C9ORF72 repeat expansion.
作者信息
Martikainen Mika H, Gardberg Maria, Jansson Lilja, Röyttä Matias, Rinne Juha O, Kaasinen Valtteri
机构信息
a Department of Neurology , University of Turku and Turku University Hospital , Turku , Finland.
出版信息
Neurocase. 2014 Apr;20(2):150-7. doi: 10.1080/13554794.2012.741252. Epub 2012 Dec 5.
The C9ORF72 hexanucleotide expansion is a major pathological expansion pattern found in patients with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (C9FTD/ALS). We describe a patient in whom early clinical evaluation, MRI and fluorodeoxyglucose (FDG) positron emission tomography (PET) findings failed to definitively differentiate between FTD and Alzheimer's disease (AD), whereas (11)C-Pittsburgh compound B (PiB) PET was negative for amyloid pathology. He later developed ALS symptoms, and post mortem neuropathological findings were diagnostic of FTD-ALS, while no findings suggested AD. His sister was diagnosed with FTD, and the C9ORF72 expansion was detected in both siblings. We conclude that ¹¹C-PiB PET imaging may help the early differential diagnosis between AD and FTD, including C9FTD/ALS.
C9ORF72六核苷酸重复扩增是额颞叶痴呆（FTD）和肌萎缩侧索硬化症（C9FTD/ALS）患者中发现的一种主要病理扩增模式。我们描述了一名患者，其早期临床评估、MRI和氟脱氧葡萄糖（FDG）正电子发射断层扫描（PET）结果未能明确区分FTD和阿尔茨海默病（AD），而（11）C-匹兹堡化合物B（PiB）PET的淀粉样蛋白病理结果为阴性。他后来出现了ALS症状，死后神经病理学检查结果诊断为FTD-ALS，未发现提示AD的结果。他的妹妹被诊断为FTD，在这对兄妹中均检测到C9ORF72重复扩增。我们得出结论，¹¹C-PiB PET成像可能有助于AD和FTD（包括C9FTD/ALS）的早期鉴别诊断。
Zotero 插件