FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations
Diehl-Schmid J, Licata A, Goldhardt O, Foerstl H, Yakushew I, Otto M, Anderl-Straub S, Beer A, Ludolph AC, Landwehrmeyer GB, Levin J, Danek A, Fliessbach K, Spottke A, Fassbender K, Lyros E, Prudlo J, Krause BJ, Volk A, Edbauer D, Schroeter ML, Drzezga A, Kornhuber J, Lauer M, Ackl N, Arnim CV, Brumberg J, Gaertner F, Jahn H, Kasper E, Kassubek J, Prix C, Riedl L, Rossmeier C, Schoenecker S, Semler E, Teipel S, Westerteicher C, Wlasich E, Grimmer T (2019)
Publication Type: Journal article
Publication year: 2019
Journal
Book Volume: 9
DOI: 10.1038/s41398-019-0381-1
Abstract
C9ORF72 mutations are the most common cause of familial frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). MRI studies have investigated structural changes in C9ORF72-associated FTLD (C9FTLD) and provided first insights about a prominent involvement of the thalamus and the cerebellum. Our multicenter, F-18-fluorodeoxyglucose positron-emission tomography study of 22 mutation carriers with FTLD, 22 matched non-carriers with FTLD, and 23 cognitively healthy controls provided valuable insights into functional changes in C9FTLD: compared to non-carriers, mutation carriers showed a significant reduction of glucose metabolism in both thalami, underscoring the key role of the thalamus in C9FTLD. Thalamic metabolism did not correlate with disease severity, duration of disease, or the presence of psychotic symptoms. Against our expectations we could not demonstrate a cerebellar hypometabolism in carriers or non-carriers. Future imaging and neuropathological studies in large patient cohorts are required to further elucidate the central role of the thalamus in C9FTLD.
Authors with CRIS profile
Involved external institutions
Universitätsklinikum Ulm
Germany (DE)
Rheinische Friedrich-Wilhelms-Universität Bonn
Germany (DE)
Ludwig-Maximilians-Universität (LMU)
Germany (DE)
Universitätsklinikum Hamburg-Eppendorf (UKE)
Germany (DE)
Technische Universität München (TUM)
Germany (DE)
Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE)
Germany (DE)
Berufsgenossenschaftlichen Kliniken Bergmannstrost Halle
Germany (DE)
Universität des Saarlandes (UdS)
Germany (DE)
Universitätsklinikum Leipzig
Germany (DE)
Universitätsklinikum Würzburg
Germany (DE)
Universität Rostock
Germany (DE)
Universität zu Köln
Germany (DE)
Germany (DE)
Rheinische Friedrich-Wilhelms-Universität Bonn
Germany (DE)
Ludwig-Maximilians-Universität (LMU)
Germany (DE)
Universitätsklinikum Hamburg-Eppendorf (UKE)
Germany (DE)
Technische Universität München (TUM)
Germany (DE)
Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE)
Germany (DE)
Berufsgenossenschaftlichen Kliniken Bergmannstrost Halle
Germany (DE)
Universität des Saarlandes (UdS)
Germany (DE)
Universitätsklinikum Leipzig
Germany (DE)
Universitätsklinikum Würzburg
Germany (DE)
Universität Rostock
Germany (DE)
Universität zu Köln
Germany (DE)
How to cite
APA:
Diehl-Schmid, J., Licata, A., Goldhardt, O., Foerstl, H., Yakushew, I., Otto, M.,... Grimmer, T. (2019). FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations. Translational Psychiatry, 9. https://dx.doi.org/10.1038/s41398-019-0381-1
MLA:
Diehl-Schmid, Janine, et al. "FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations." Translational Psychiatry 9 (2019).
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