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Licata, A.* ; Grimmer, T.* ; Winkelmann, J. ; Wagner, M. ; Goldhardt, O.* ; Riedl, L.* ; Roßmeier, C.* ; Yakushev, I.* ; Diehl-Schmid, J.*

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

Amyotroph. Lateral Scler. Frontotemporal Degener. 21, 389-395 (2020)
DOI PMC
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.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords 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
ISSN (print) / ISBN 2167-8421
e-ISSN 2167-9223
Journal Amyotrophic Lateral Sclerosis and Frontotemporal Degenerations
Quellenangaben Volume: 21, Issue: 5-6, Pages: 389-395 Article Number: , Supplement: ,
Publisher Taylor & Francis Ltd
Publishing Place Abingdon, Oxford
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Institute of Human Genetics (IHG)