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@ARTICLE{Schnecker:139856,
author = {Schönecker, Sonja and Neuhofer, Christiane and Otto,
Markus and Ludolph, Albert and Kassubek, Jan and
Landwehrmeyer, Bernhard and Anderl-Straub, Sarah and Semler,
Elisa and Diehl-Schmid, Janine and Prix, Catharina and
Vollmar, Christian and Fortea, Juan and FTLD-Konsortium,
Deutsches and Huppertz, Hans-Jürgen and Arzberger, Thomas
and Edbauer, Dieter and Feddersen, Berend and Dieterich,
Marianne and Schroeter, Matthias L and Volk, Alexander E and
Fließbach, Klaus and Schneider, Anja and Kornhuber,
Johannes and Maler, Manuel and Prudlo, Johannes and Jahn,
Holger and Boeckh-Behrens, Tobias and Danek, Adrian and
Klopstock, Thomas and Levin, Johannes and Roßmeier, Carola
and Albrecht, Franziska and Schümberg, Katharina and
Bisenius, Sandrine},
title = {{A}trophy in the {T}halamus {B}ut {N}ot {C}erebellum {I}s
{S}pecific for {C}9orf72 {FTD} and {ALS} {P}atients - {A}n
{A}tlas-{B}ased {V}olumetric {MRI} {S}tudy.},
journal = {Frontiers in aging neuroscience},
volume = {10},
issn = {1663-4365},
address = {Lausanne},
publisher = {Frontiers Research Foundation},
reportid = {DZNE-2020-06178},
pages = {45},
year = {2018},
abstract = {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. Methods: Atlas-based volumetry was performed in 13
affected C9orf72 FTD, 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 in
C9orf72 mutation carriers goes beyond the expected atrophy
in the prefrontal and temporal subregion and is in good
agreement with the cortical atrophy pattern described in
C9orf72 mutation 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 differentiating C9orf72 mutation
carriers from patients with sporadic FTD.},
cin = {AG Edbauer / Clinical Dementia Research München / Patient
studies, Bonn / Clinical Dementia Research Bonn / Clinical
Dementia Research Rostock /Greifswald ; AG Teipel},
ddc = {610},
cid = {I:(DE-2719)1110004 / I:(DE-2719)1111016 /
I:(DE-2719)1011101 / I:(DE-2719)1011305 /
I:(DE-2719)1510100},
pnm = {342 - Disease Mechanisms and Model Systems (POF3-342) / 344
- Clinical and Health Care Research (POF3-344)},
pid = {G:(DE-HGF)POF3-342 / G:(DE-HGF)POF3-344},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:29599716},
pmc = {pmc:PMC5863593},
doi = {10.3389/fnagi.2018.00045},
url = {https://pub.dzne.de/record/139856},
}