Department of Neurology, Washington University, Saint Louis, MO, USA.
Department of Radiology, Washington University, Saint Louis, MO, USA.
Eur J Neurol. 2019 Sep;26(9):1235-1239. doi: 10.1111/ene.13940. Epub 2019 Mar 25.
AV-1451 ( F-AV-1451, flortaucipir) positron emission tomography was performed in C9orf72 expansion carriers to assess tau accumulation and disease manifestation.
Nine clinically characterized C9orf72 expansion carriers and 18 age- and gender- matched cognitively normal individuals were psychometrically evaluated and underwent tau positron emission tomography imaging. The regional AV-1451 standard uptake value ratios from multiple brain regions were analyzed. Spearman correlation was performed to relate the AV-1451 standard uptake value ratio to clinical, psychometric and cerebrospinal fluid measures.
C9orf72 expansion carriers had increased AV-1451 binding in the entorhinal cortex compared to controls. Primary age-related tauopathy was observed postmortem in one patient. AV-1451 uptake did not correlate with clinical severity, disease duration, psychometric performance or cerebrospinal fluid markers.
C9orf72 expansion carriers exhibited increased AV-1451 uptake in entorhinal cortex compared to cognitively normal controls, suggesting a propensity for primary age-related tauopathy. However, AV-1451 accumulation was not associated with psychometric performance in our cohort.
AV-1451（F-AV-1451，flortaucipir）正电子发射断层扫描（PET）用于 C9orf72 扩张携带者，以评估 tau 积累和疾病表现。
9 名临床特征明确的 C9orf72 扩张携带者和 18 名年龄和性别匹配的认知正常个体进行了心理评估，并进行了 tau 正电子发射断层扫描成像。分析了来自多个大脑区域的 AV-1451 标准摄取比值。进行 Spearman 相关性分析，以将 AV-1451 标准摄取比值与临床、心理计量学和脑脊液测量相关联。
与对照组相比，C9orf72 扩张携带者的内嗅皮质 AV-1451 结合增加。一名患者死后表现为原发性年龄相关性 tau 病。AV-1451 摄取与临床严重程度、疾病持续时间、心理计量学表现或脑脊液标志物无关。
与认知正常对照组相比，C9orf72 扩张携带者的内嗅皮质 AV-1451 摄取增加，提示存在原发性年龄相关性 tau 病的倾向。然而，在我们的队列中，AV-1451 的积累与心理计量学表现无关。
