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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},
}