Abstract：
BACKGROUND: FTLD-FET is a newly described subtype of frontotemporal lobar degeneration (FTLD characterized by pathologic inclusions of FET proteins: fused in sarcoma (FUS), Ewing sarcoma, and TATA-binding protein-associated factor 2N (TAF15)). Severe caudate volume loss on MRI has been linked to FTLD-FUS, yet glucose hypometabolism in FTLD-FET has not been studied. We assessed [18F] fluorodeoxyglucose PET (FDG-PET) hypometabolism in FTLD-FET subtypes and compared metabolism to FTLD-tau and FTLD-TDP.
METHODS: We retrospectively reviewed medical records of 26 autopsied FTLD patients (six FTLD-FET, ten FTLD-Tau, and ten FTLD-TDP) who had completed antemortem FDG-PET. We evaluated five regions, caudate nucleus, medial frontal cortex, lateral frontal cortex, and medial temporal using a 0-3 visual rating scale and validated our findings quantitatively using CORTEX-ID suite Z scores.
RESULTS: Of the six FTLD-FET cases (three females) with median age at onset = 36, three were atypical FTLD-U (aFTLD-U) and three were neuronal intermediate filament inclusion disease (NIFID). bvFTD was the most common presentation. Four of the six FTLD cases (3 aFTLD-U + 1 NIFID) showed prominent caudate hypometabolism relatively early in the disease course. FTLD-tau and FTLD-TDP did not show early prominent caudate hypometabolism. Hypometabolism in medial and lateral temporal cortex was associated with FTLD-TDP, while FTLD-tau had normal-minimal regional metabolism.
CONCLUSIONS: Prominent caudate hypometabolism, especially early in the disease course, appears to be a hallmark feature of the aFTLD-U subtype of FTLD-FET. Assessing caudate and temporal hypometabolism on FDG-PET will help to differentiate FTLD-FET from FTLD-tau and FTLD-TDP.
METHODS: We retrospectively reviewed medical records of 26 autopsied FTLD patients (six FTLD-FET, ten FTLD-Tau, and ten FTLD-TDP) who had completed antemortem FDG-PET. We evaluated five regions, caudate nucleus, medial frontal cortex, lateral frontal cortex, and medial temporal using a 0-3 visual rating scale and validated our findings quantitatively using CORTEX-ID suite Z scores.
RESULTS: Of the six FTLD-FET cases (three females) with median age at onset = 36, three were atypical FTLD-U (aFTLD-U) and three were neuronal intermediate filament inclusion disease (NIFID). bvFTD was the most common presentation. Four of the six FTLD cases (3 aFTLD-U + 1 NIFID) showed prominent caudate hypometabolism relatively early in the disease course. FTLD-tau and FTLD-TDP did not show early prominent caudate hypometabolism. Hypometabolism in medial and lateral temporal cortex was associated with FTLD-TDP, while FTLD-tau had normal-minimal regional metabolism.
CONCLUSIONS: Prominent caudate hypometabolism, especially early in the disease course, appears to be a hallmark feature of the aFTLD-U subtype of FTLD-FET. Assessing caudate and temporal hypometabolism on FDG-PET will help to differentiate FTLD-FET from FTLD-tau and FTLD-TDP.
摘要：
背景：FTLD-FET是一种新描述的额颞叶变性亚型（FTLD以FET蛋白的病理包涵体为特征：融合于肉瘤（FUS），尤因肉瘤,和TATA结合蛋白相关因子2N(TAF15)。MRI上严重的尾状体积损失与FTLD-FUS有关,然而FTLD-FET中的葡萄糖低代谢尚未被研究。我们评估了FTLD-FET亚型中的[18F]氟代脱氧葡萄糖PET（FDG-PET）代谢不足，并将代谢与FTLD-tau和FTLD-TDP进行了比较。
方法：我们回顾性回顾了26例尸检FTLD患者的医疗记录（6例FTLD-FET，十个FTLD-Tau，和10名FTLD-TDP）完成了生前FDG-PET。我们评估了五个地区，尾状核,内侧额叶皮质,外侧额叶皮质,和内侧时间使用0-3视觉评分量表，并使用CORTEX-ID套件Z评分定量验证我们的发现。
结果：在发病中位年龄为36岁的6例FTLD-FET病例（3例女性）中，3例为非典型FTLD-U（aFTLD-U），3例为神经元中间丝包涵体病（NIFID）。bvFTD是最常见的介绍。6例FTLD病例中的4例（3aFTLD-U1NIFID）在病程早期显示出明显的尾状低代谢。FTLD-tau和FTLD-TDP未显示早期明显的尾状低代谢。内侧和外侧颞叶皮质的低代谢与FTLD-TDP相关,而FTLD-tau具有正常-最小的区域代谢。
结论：明显的尾状低代谢，尤其是在病程早期，似乎是FTLD-FET的aFTLD-U亚型的标志性特征。在FDG-PET上评估尾状和时间低代谢将有助于区分FTLD-FET与FTLD-tau和FTLD-TDP。
方法：我们回顾性回顾了26例尸检FTLD患者的医疗记录（6例FTLD-FET，十个FTLD-Tau，和10名FTLD-TDP）完成了生前FDG-PET。我们评估了五个地区，尾状核,内侧额叶皮质,外侧额叶皮质,和内侧时间使用0-3视觉评分量表，并使用CORTEX-ID套件Z评分定量验证我们的发现。
结果：在发病中位年龄为36岁的6例FTLD-FET病例（3例女性）中，3例为非典型FTLD-U（aFTLD-U），3例为神经元中间丝包涵体病（NIFID）。bvFTD是最常见的介绍。6例FTLD病例中的4例（3aFTLD-U1NIFID）在病程早期显示出明显的尾状低代谢。FTLD-tau和FTLD-TDP未显示早期明显的尾状低代谢。内侧和外侧颞叶皮质的低代谢与FTLD-TDP相关,而FTLD-tau具有正常-最小的区域代谢。
结论：明显的尾状低代谢，尤其是在病程早期，似乎是FTLD-FET的aFTLD-U亚型的标志性特征。在FDG-PET上评估尾状和时间低代谢将有助于区分FTLD-FET与FTLD-tau和FTLD-TDP。
