早发性阿尔茨海默病伴早老素-1突变患者tau蛋白的后部积聚与相应的代谢减低

Posterior Accumulation of Tau and Concordant Hypometabolism in an Early-Onset Alzheimer's Disease Patient with Presenilin-1 Mutation.

作者信息

Smith Ruben, Wibom Moa, Olsson Tomas, Hägerström Douglas, Jögi Jonas, Rabinovici Gil D, Hansson Oskar

机构信息

Departments of Neurology, Skåne University Hospital, Lund-Malmö, Sweden.

Memory Clinic, Ängelholm Hospital, Ängelholm, Sweden.

出版信息

J Alzheimers Dis. 2016;51(2):339-43. doi: 10.3233/JAD-151004.

DOI:10.3233/JAD-151004

PMID:26836192

Abstract

It is unclear whether the distribution of tau pathology differs between cases with early-onset familial Alzheimer's disease (AD) and sporadic AD. We present positron emission tomography (PET) data from a young patient with a presenilin-1 mutation (Thr116Asn). 18F-flutemetamol PET showed a distribution of amyloid-β fibrils similar to sporadic AD. However, the pattern of tau pathology, revealed using 18F-AV1451 PET, showed higher uptake in posterior cingulate, precuneus, parietal and occipital cortices compared to late-onset sporadic AD. Further, the tau pathology, but not amyloid pathology, exhibited a very clear inverse relationship with 18F-fluorodeoxyglucose-metabolism, indicating neuronal hypometabolism in regions affected by tau aggregates.

摘要

早发性家族性阿尔茨海默病（AD）与散发性AD患者之间tau蛋白病理分布是否存在差异尚不清楚。我们展示了一名携带早老素-1突变（Thr116Asn）的年轻患者的正电子发射断层扫描（PET）数据。18F-氟替莫尔PET显示淀粉样β纤维的分布与散发性AD相似。然而，使用18F-AV1451 PET显示的tau蛋白病理模式表明，与晚发性散发性AD相比，后扣带回、楔前叶、顶叶和枕叶皮质的摄取更高。此外，tau蛋白病理而非淀粉样蛋白病理与18F-氟脱氧葡萄糖代谢呈现非常明显的负相关，表明tau蛋白聚集影响区域存在神经元代谢减退。