TY - JOUR
T1 - FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations
AU - FTLDc Study Group
AU - Diehl-Schmid, Janine
AU - Licata, Abigail
AU - Goldhardt, Oliver
AU - Förstl, Hans
AU - Yakushew, Igor
AU - Otto, Markus
AU - Anderl-Straub, Sarah
AU - Beer, Ambros
AU - Ludolph, Albert Christian
AU - Landwehrmeyer, Georg Bernhard
AU - Levin, Johannes
AU - Danek, Adrian
AU - Fliessbach, Klaus
AU - Spottke, Annika
AU - Fassbender, Klaus
AU - Lyros, Epameinondas
AU - Prudlo, Johannes
AU - Krause, Bernd Joachim
AU - Volk, Alexander
AU - Edbauer, Dieter
AU - Schroeter, Matthias Leopold
AU - Drzezga, Alexander
AU - Kornhuber, Johannes
AU - Lauer, Martin
AU - Ackl, Nibal
AU - Arnim, Christine v.
AU - Brumberg, Joachim
AU - Gärtner, Florian
AU - Jahn, Holger
AU - Kasper, Elisabeth
AU - Kassubek, Jan
AU - Prix, Catharina
AU - Riedl, Lina
AU - Roßmeier, Carola
AU - Schönecker, Sonja
AU - Semler, Elisa
AU - Teipel, Stefan
AU - Westerteicher, Christine
AU - Wlasich, Elisabeth
AU - Grimmer, Timo
N1 - Publisher Copyright:
© 2019, The Author(s).
PY - 2019/12/1
Y1 - 2019/12/1
N2 - 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, 18 F-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.
AB - 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, 18 F-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.
UR - http://www.scopus.com/inward/record.url?scp=85060921530&partnerID=8YFLogxK
U2 - 10.1038/s41398-019-0381-1
DO - 10.1038/s41398-019-0381-1
M3 - Article
C2 - 30705258
AN - SCOPUS:85060921530
SN - 2158-3188
VL - 9
JO - Translational Psychiatry
JF - Translational Psychiatry
IS - 1
M1 - 54
ER -