Atrophy in the Thalamus But Not Cerebellum Is Specific forFTD and ALS Patients - An Atlas-Based Volumetric MRI Study
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Atrophy in the Thalamus But Not Cerebellum Is Specific forFTD and ALS Patients - An Atlas-Based Volumetric MRI Study. / Schönecker, Sonja; Neuhofer, Christiane; Otto, Markus; Ludolph, Albert; Kassubek, Jan; Landwehrmeyer, Bernhard; Anderl-Straub, Sarah; Semler, Elisa; Diehl-Schmid, Janine; Prix, Catharina; Vollmar, Christian; Fortea, Juan; Huppertz, Hans-Jürgen; Arzberger, Thomas; Edbauer, Dieter; Feddersen, Berend; Dieterich, Marianne; Schroeter, Matthias L; Volk, Alexander E; Fließbach, Klaus; Schneider, Anja; Kornhuber, Johannes; Maler, Manuel; Prudlo, Johannes; Jahn, Holger; Boeckh-Behrens, Tobias; Danek, Adrian; Klopstock, Thomas; Levin, Johannes; FTLD Consortium Germany.
In: FRONT AGING NEUROSCI, Vol. 10, 2018, p. 45.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Atrophy in the Thalamus But Not Cerebellum Is Specific forFTD and ALS Patients - An Atlas-Based Volumetric MRI Study
AU - Schönecker, Sonja
AU - Neuhofer, Christiane
AU - Otto, Markus
AU - Ludolph, Albert
AU - Kassubek, Jan
AU - Landwehrmeyer, Bernhard
AU - Anderl-Straub, Sarah
AU - Semler, Elisa
AU - Diehl-Schmid, Janine
AU - Prix, Catharina
AU - Vollmar, Christian
AU - Fortea, Juan
AU - Huppertz, Hans-Jürgen
AU - Arzberger, Thomas
AU - Edbauer, Dieter
AU - Feddersen, Berend
AU - Dieterich, Marianne
AU - Schroeter, Matthias L
AU - Volk, Alexander E
AU - Fließbach, Klaus
AU - Schneider, Anja
AU - Kornhuber, Johannes
AU - Maler, Manuel
AU - Prudlo, Johannes
AU - Jahn, Holger
AU - Boeckh-Behrens, Tobias
AU - Danek, Adrian
AU - Klopstock, Thomas
AU - Levin, Johannes
AU - FTLD Consortium Germany
PY - 2018
Y1 - 2018
N2 - Background: The neuropathology of patients with frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS) due to aC9orf72mutation 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 toC9orf72mutation 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.Methods: Atlas-based volumetry was performed in 13 affectedC9orf72FTD, ALS and FTD/ALS patients, 45 sporadic FTD and FTD/ALS patients and 19 healthy controls. Volumes and laterality indices showing significant differences between mutation carriers and sporadic patients were subjected to binary logistic regression to determine the best predictor of mutation carrier status. Results: Compared to sporadic patients, mutation carriers showed a significant volume reduction of the thalamus, which was most striking in the occipital, temporal and prefrontal subregion of the thalamus. Disease severity measured by mini mental status examination (MMSE) and FTD modified Clinical Dementia Rating Scale Sum of Boxes (FTD-CDR-SOB) significantly correlated with volume reduction in the aforementioned thalamic subregions. No significant atrophy of cerebellar regions could be detected. A logistic regression model using the volume of the prefrontal and the laterality index of the occipital subregion of the thalamus as predictor variables resulted in an area under the curve (AUC) of 0.88 while a model using overall thalamic volume still resulted in an AUC of 0.82.Conclusion: Our data show that thalamic atrophy inC9orf72mutation carriers goes beyond the expected atrophy in the prefrontal and temporal subregion and is in good agreement with the cortical atrophy pattern described inC9orf72mutation carriers, indicating a retrograde degeneration of functionally connected regions. Clinical relevance of the detected thalamic atrophy is illustrated by a correlation with disease severity. Furthermore, the findings suggest MRI volumetry of the thalamus to be of high predictive value in differentiatingC9orf72mutation carriers from patients with sporadic FTD.
AB - Background: The neuropathology of patients with frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS) due to aC9orf72mutation 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 toC9orf72mutation 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.Methods: Atlas-based volumetry was performed in 13 affectedC9orf72FTD, ALS and FTD/ALS patients, 45 sporadic FTD and FTD/ALS patients and 19 healthy controls. Volumes and laterality indices showing significant differences between mutation carriers and sporadic patients were subjected to binary logistic regression to determine the best predictor of mutation carrier status. Results: Compared to sporadic patients, mutation carriers showed a significant volume reduction of the thalamus, which was most striking in the occipital, temporal and prefrontal subregion of the thalamus. Disease severity measured by mini mental status examination (MMSE) and FTD modified Clinical Dementia Rating Scale Sum of Boxes (FTD-CDR-SOB) significantly correlated with volume reduction in the aforementioned thalamic subregions. No significant atrophy of cerebellar regions could be detected. A logistic regression model using the volume of the prefrontal and the laterality index of the occipital subregion of the thalamus as predictor variables resulted in an area under the curve (AUC) of 0.88 while a model using overall thalamic volume still resulted in an AUC of 0.82.Conclusion: Our data show that thalamic atrophy inC9orf72mutation carriers goes beyond the expected atrophy in the prefrontal and temporal subregion and is in good agreement with the cortical atrophy pattern described inC9orf72mutation carriers, indicating a retrograde degeneration of functionally connected regions. Clinical relevance of the detected thalamic atrophy is illustrated by a correlation with disease severity. Furthermore, the findings suggest MRI volumetry of the thalamus to be of high predictive value in differentiatingC9orf72mutation carriers from patients with sporadic FTD.
KW - Journal Article
U2 - 10.3389/fnagi.2018.00045
DO - 10.3389/fnagi.2018.00045
M3 - SCORING: Journal article
C2 - 29599716
VL - 10
SP - 45
JO - FRONT AGING NEUROSCI
JF - FRONT AGING NEUROSCI
SN - 1663-4365
ER -