Diehl-Schmid, Janine ORCID: 0000-0002-7745-1382, Licata, Abigail, Goldhardt, Oliver, Foerstl, Hans, Yakushew, Igor, Otto, Markus ORCID: 0000-0003-4273-4267, Anderl-Straub, Sarah, Beer, Ambros, Ludolph, Albert Christian, Landwehrmeyer, Georg Bernhard ORCID: 0000-0003-3375-790X, Levin, Johannes ORCID: 0000-0001-5092-4306, Danek, Adrian ORCID: 0000-0001-8857-5383, Fliessbach, Klaus, Spottke, Annika, Fassbender, Klaus ORCID: 0000-0003-3596-868X, Lyros, Epameinondas, Prudlo, Johannes, Krause, Bernd Joachim, Volk, Alexander, Edbauer, Dieter, Schroeter, Matthias Leopold, Drzezga, Alexander, Kornhuber, Johannes, Lauer, Martin, Ackl, Nibal, Arnim, Christine V., Brumberg, Joachim, Gaertner, Florian, Jahn, Holger ORCID: 0000-0003-3607-7651, Kasper, Elisabeth, Kassubek, Jan ORCID: 0000-0002-7106-9270, Prix, Catharina, Riedl, Lina, Rossmeier, Carola, Schoenecker, Sonja, Semler, Elisa, Teipel, Stefan, Westerteicher, Christine, Wlasich, Elisabeth and Grimmer, Timo (2019). FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations. Transl. Psychiatr., 9. NEW YORK: NATURE PUBLISHING GROUP. ISSN 2158-3188

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Diehl-Schmid, JanineUNSPECIFIEDorcid.org/0000-0002-7745-1382UNSPECIFIED
Licata, AbigailUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goldhardt, OliverUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Foerstl, HansUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yakushew, IgorUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Otto, MarkusUNSPECIFIEDorcid.org/0000-0003-4273-4267UNSPECIFIED
Anderl-Straub, SarahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beer, AmbrosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ludolph, Albert ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Landwehrmeyer, Georg BernhardUNSPECIFIEDorcid.org/0000-0003-3375-790XUNSPECIFIED
Levin, JohannesUNSPECIFIEDorcid.org/0000-0001-5092-4306UNSPECIFIED
Danek, AdrianUNSPECIFIEDorcid.org/0000-0001-8857-5383UNSPECIFIED
Fliessbach, KlausUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Spottke, AnnikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fassbender, KlausUNSPECIFIEDorcid.org/0000-0003-3596-868XUNSPECIFIED
Lyros, EpameinondasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Prudlo, JohannesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Krause, Bernd JoachimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Volk, AlexanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Edbauer, DieterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schroeter, Matthias LeopoldUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Drzezga, AlexanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kornhuber, JohannesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lauer, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ackl, NibalUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arnim, Christine V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brumberg, JoachimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gaertner, FlorianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jahn, HolgerUNSPECIFIEDorcid.org/0000-0003-3607-7651UNSPECIFIED
Kasper, ElisabethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kassubek, JanUNSPECIFIEDorcid.org/0000-0002-7106-9270UNSPECIFIED
Prix, CatharinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riedl, LinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rossmeier, CarolaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schoenecker, SonjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Semler, ElisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Teipel, StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Westerteicher, ChristineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wlasich, ElisabethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grimmer, TimoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-158690
DOI: 10.1038/s41398-019-0381-1
Journal or Publication Title: Transl. Psychiatr.
Volume: 9
Date: 2019
Publisher: NATURE PUBLISHING GROUP
Place of Publication: NEW YORK
ISSN: 2158-3188
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
DIPEPTIDE REPEAT PROTEINS; HEXANUCLEOTIDE REPEAT; BEHAVIORAL VARIANT; ALZHEIMERS-DISEASE; DEMENTIA; EXPANSIONS; PATHOLOGY; PATTERNS; CRITERIA; VOLUMESMultiple languages
PsychiatryMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/15869

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