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Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration ( IF 2.8 ) Pub Date : 2020-06-22 , DOI: 10.1080/21678421.2020.1779302
Abigail Licata 1, 2 , Timo Grimmer 1 , Juliane Winkelmann 3, 4, 5 , Matias Wagner 4, 5, 6 , Oliver Goldhardt 1 , Lina Riedl 1 , Carola Roßmeier 1 , Igor Yakushev 7 , Janine Diehl-Schmid 1, 3
Affiliation  

Objective: The aims of our study were to describe the clinical phenotype and to characterize the cerebral glucose metabolism patterns as measured with fluordesoxyglucose-positron emission tomography (FDG-PET) in symptomatic FTLD-patients with different GRN variants. Methods: For this study, data were included from all patients (n = 10) of a single-center FTLD registry study who had a pathogenic GRN variant and who had undergone a cerebral FDG-PET scan. Results: An overt variability of clinical phenotypes was identified with half of the cases being not unambiguously classifiable into one of the clinical FTLD subtypes. Furthermore, GRN + patients showed a considerable inter-individual variability of FDG uptake pattern. In half of the GRN + patients, metabolic changes expanded from frontal and temporal brain regions to parietal brain regions including the posterior cingulate cortex. Striking asymmetry without a preference for either hemisphere was overt in half of GRN + cases. Conclusion: We conclude that GRN mutations cause variable patterns of neurodegeneration that often exceed the anatomical boundaries of the frontotemporal brain regions and produce clinical syndromes that cannot clearly be classified into one of the subtypes as defined by the diagnostic criteria.



中文翻译:

与颗粒蛋白前体突变相关的症状性额颞叶变性中临床综合征和脑葡萄糖代谢的变异性。

目的:我们研究的目的是描述临床表型并表征用氟脱氧葡萄糖 - 正电子发射断层扫描 (FDG-PET) 在具有不同GRN变异的有症状的 FTLD 患者中测量的脑葡萄糖代谢模式。方法:对于这项研究,数据包括来自 单中心 FTLD 注册研究的所有患者(n = 10),这些患者具有致病性 GRN 变异并接受了脑部 FDG-PET 扫描。结果:确定了临床表型的明显可变性,其中一半的病例不能明确地归类为临床 FTLD 亚型之一。此外,GRN + 患者表现出相当大的 FDG 摄取模式的个体间差异。在一半的 GRN + 患者中,代谢变化从额叶和颞叶脑区扩展到顶叶脑区,包括后扣带回皮层。在一半的 GRN + 病例中,明显不对称而不偏爱任一半球。结论:我们得出结论,GRN 突变会导致神经退行性变的不同模式,这些模式经常超出额颞叶脑区的解剖边界,并产生无法明确归类为诊断标准定义的亚型之一的临床综合征。

更新日期:2020-08-31
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