Sonja Schönecker, Christiane Neuhofer, Markus Otto, Albert Ludolph, Jan Kassubek, Bernhard Landwehrmeyer, Sarah Anderl-Straub, Elisa Semler, Janine Diehl-Schmid, Catharina Prix, Christian Vollmar, Juan Fortea, Hans-Jürgen Huppertz, Thomas Arzberger, Dieter Edbauer, Berend Feddersen, Marianne Dieterich, Matthias L Schroeter, Alexander E Volk, Klaus Fließbach, Anja Schneider, Johannes Kornhuber, Manuel Maler, Johannes Prudlo, Holger Jahn, Tobias Boeckh-Behrens, Adrian Danek, Thomas Klopstock, Johannes Levin
Background: The neuropathology of patients with frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS) due to a C9orf72 mutation is characterized by two distinct types of characteristic protein depositions containing either TDP-43 or so-called dipeptide repeat proteins that extend beyond frontal and temporal regions. Thalamus and cerebellum seem to be preferentially affected by the dipeptide repeat pathology unique to C9orf72 mutation carriers. Objective: This study aimed to determine if mutation carriers showed an enhanced degree of thalamic and cerebellar atrophy compared to sporadic patients or healthy controls...
2018: Frontiers in Aging Neuroscience