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  FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations

Diehl-Schmid, J., Licata, A., Goldhardt, O., Förstl, H., Yakushew, I., Otto, M., et al. (2019). FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations. Translational Psychiatry, 9(1): 54. doi:10.1038/s41398-019-0381-1.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0002-F874-4 Version Permalink: http://hdl.handle.net/21.11116/0000-0003-A31C-6
Genre: Journal Article

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 Creators:
Diehl-Schmid, Janine 1, Author
Licata, Abigail1, Author
Goldhardt, Oliver 1, Author
Förstl, Hans 1, Author
Yakushew, Igor 2, Author
Otto, Markus 3, Author
Anderl-Straub, Sarah 3, Author
Beer, Ambros 3, Author
Ludolph, Albert Christian 3, Author
Landwehrmeyer, Georg Bernhard 3, Author
Levin, Johannes 4, 5, Author
Danek, Adrian 4, Author
Fliessbach, Klaus 6, 7, Author
Spottke, Annika 7, 8, Author
Fassbender , Klaus 9, Author
Lyros, Epameinondas 9, Author
Prudlo, Johannes 10, Author
Krause, Bernd Joachim 11, Author
Volk, Alexander 12, Author
Edbauer, Dieter 5, 13, Author
Schroeter, Matthias L.14, 15, Author              Drzezga, Alexander 16, 17, AuthorKornhuber, Johannes 18, AuthorLauer, Martin 19, AuthorFTLDc Study Group, Author              Grimmer, Timo 1, Author more..
Affiliations:
1Departments of Psychiatry and Psychotherapy, TU Munich, Germany, ou_persistent22              
2Department of Nuclear Medicine, TU Munich, Germany, ou_persistent22              
3Department of Neurology, Ulm University, Germany, ou_persistent22              
4Neurologische Klinik und Poliklinik, Ludwig Maximilians University Munich, Germany, ou_persistent22              
5German Center for Neurodegenerative Diseases, Munich, Germany, ou_persistent22              
6Department of Neurodegenerative Disease and Geriatric Psychiatry, University Hospital Bonn, Germany, ou_persistent22              
7German Center for Neurodegenerative Diseases, Bonn, Germany, ou_persistent22              
8Department of Neurology, University Bonn, Germany, ou_persistent22              
9Department of Neurology, Saarland University Homburg, Germany, ou_persistent22              
10Department of Neurology, University Medicine Rostock, Germany, ou_persistent22              
11Department of Nuclear Medicine, University Medicine Rostock, Germany, ou_persistent22              
12Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany, ou_persistent22              
13Munich Cluster for Systems Neurology (SyNergy), Ludwig Maximilians University Munich, Germany, ou_persistent22              
14Clinic for Cognitive Neurology, University of Leipzig, Germany, ou_persistent22              
15Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634549              
16Department of Nuclear Medicine, University of Cologne, Germany, ou_persistent22              
17German Center for Neurodegenerative Diseases, Cologne, Germany, ou_persistent22              
18Department of Psychology and Psychotherapy, Friedrich Alexander University Erlangen, Germany, ou_persistent22              
19Department of Psychiatry, Psychosomatics and Psychotherapy, University Hospital Würzburg, Germany, ou_persistent22              

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Free keywords: Diagnostic markers; Psychiatric disorders
 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, 18F-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.

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Language(s): eng - English
 Dates: 2018-12-052018-05-162019-01-012019-01-31
 Publication Status: Published online
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: PMC: PMC6355852
PMID: 30705258
DOI: 10.1038/s41398-019-0381-1
 Degree: -

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Project name : German Consortium for Frontotemporal Lobar Degeneration
Grant ID : 01GI1007A
Funding program : -
Funding organization : German Federal Ministry of Education and Research (BMBF)
Project name : -
Grant ID : 01GI0704
Funding program : -
Funding organization : German Federal Ministry of Education and Research (BMBF)
Project name : -
Grant ID : -
Funding program : -
Funding organization : German Center for Neurodegenerative Diseases (DZNE)
Project name : PreFrontAls
Grant ID : 01ED1512
Funding program : -
Funding organization : Joint Programme – Neurodegenerative Disease Research (JPND)
Project name : Nutzung des menschlichen Peptidoms für die Entwicklung neuer antimikrobieller und anti-Krebs Therapeutika / SFB 1279
Grant ID : -
Funding program : -
Funding organization : German Research Foundation (DFG)
Project name : -
Grant ID : D.3830
Funding program : -
Funding organization : Foundation of the State Baden-Württemberg
Project name : -
Grant ID : D.5009
Funding program : -
Funding organization : Boehringer Ingelheim Ulm University BioCenter
Project name : -
Grant ID : -
Funding program : -
Funding organization : Thierry Latran Foundation
Project name : -
Grant ID : -
Funding program : -
Funding organization : ALS Association
Project name : Munich Cluster for System Neurology (SyNergy)
Grant ID : -
Funding program : -
Funding organization : Ludwig-Maximilians-Universität München
Project name : C9orf72 repeat expansion in FTD/ALS - from mechanisms to therapeutic approaches / DPR-MODELS
Grant ID : 617198
Funding program : Funding Programme 7
Funding organization : European Commission (EC)

Source 1

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Title: Translational Psychiatry
  Abbreviation : Transl Psychiatry
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: Nature Pub. Group
Pages: - Volume / Issue: 9 (1) Sequence Number: 54 Start / End Page: - Identifier: ISSN: 2158-3188
CoNE: https://pure.mpg.de/cone/journals/resource/2158-3188