Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations

被引:3
作者
Licata, Abigail [1 ,2 ]
Grimmer, Timo [1 ]
Winkelmann, Juliane [3 ,4 ,5 ]
Wagner, Matias [4 ,5 ,6 ]
Goldhardt, Oliver [1 ]
Riedl, Lina [1 ]
Rossmeier, Carola [1 ]
Yakushev, Igor [7 ]
Diehl-Schmid, Janine [1 ,3 ]
机构
[1] Tech Univ Munich, Sch Med, Dept Psychiat & Psychotherapy, Munich, Germany
[2] Ludwig Maximilians Univ Munchen, Dept Psychol, Munich, Germany
[3] Munich Cluster Syst Neurol SyNergy, Munich, Germany
[4] Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany
[5] Tech Univ Munich, Sch Med, Inst Human Genet, Munich, Germany
[6] Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany
[7] Tech Univ Munich, Sch Med, Dept Nucl Med, Munich, Germany
关键词
Frontotemporal lobar degeneration; behavioral variant frontotemporal dementia; primary progressive aphasia; progranulin mutation; FDG-positron emission tomography; PRIMARY PROGRESSIVE APHASIA; BEHAVIORAL VARIANT; DEMENTIA; ALZHEIMERS; HYPOMETABOLISM; NEUROPATHOLOGY; ASYMMETRY; PATHOLOGY; ATROPHY;
D O I
10.1080/21678421.2020.1779302
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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 differentGRNvariants.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.
引用
收藏
页码:389 / 395
页数:7
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