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@ARTICLE{Bede:258909,
      author       = {Bede, Peter and Lulé, Dorothée and Müller, Hans-Peter
                      and Tan, Ee Ling and Dorst, Johannes and Ludolph, Albert C
                      and Kassubek, Jan},
      title        = {{P}resymptomatic grey matter alterations in {ALS} kindreds:
                      a computational neuroimaging study of asymptomatic {C}9orf72
                      and {SOD}1 mutation carriers.},
      journal      = {Journal of neurology},
      volume       = {270},
      number       = {9},
      issn         = {0367-004x},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DZNE-2023-00682},
      pages        = {4235-4247},
      year         = {2023},
      abstract     = {The characterisation of presymptomatic disease-burden
                      patterns in asymptomatic mutation carriers has a dual
                      academic and clinical relevance. The understanding of
                      disease propagation mechanisms is of considerable conceptual
                      interests, and defining the optimal time of pharmacological
                      intervention is essential for improved clinical trial
                      outcomes.In a prospective, multimodal neuroimaging study, 22
                      asymptomatic C9orf72 GGGGCC hexanucleotide repeat carriers,
                      13 asymptomatic subjects with SOD1, and 54 'gene-negative'
                      ALS kindreds were enrolled. Cortical and subcortical grey
                      matter alterations were systematically appraised using
                      volumetric, morphometric, vertex, and cortical thickness
                      analyses. Using a Bayesian approach, the thalamus and
                      amygdala were further parcellated into specific nuclei and
                      the hippocampus was segmented into anatomically defined
                      subfields.Asymptomatic GGGGCC hexanucleotide repeat carriers
                      in C9orf72 exhibited early subcortical changes with the
                      preferential involvement of the pulvinar and mediodorsal
                      regions of the thalamus, as well as the lateral aspect of
                      the hippocampus. Volumetric approaches, morphometric
                      methods, and vertex analyses were anatomically consistent in
                      capturing focal subcortical changes in asymptomatic C9orf72
                      hexanucleotide repeat expansion carriers. SOD1 mutation
                      carriers did not exhibit significant subcortical grey matter
                      alterations. In our study, none of the two asymptomatic
                      cohorts exhibited cortical grey matter alterations on either
                      cortical thickness or morphometric analyses.The
                      presymptomatic radiological signature of C9orf72 is
                      associated with selective thalamic and focal hippocampal
                      degeneration which may be readily detectable before cortical
                      grey matter changes ensue. Our findings confirm selective
                      subcortical grey matter involvement early in the course of
                      C9orf72-associated neurodegeneration.},
      keywords     = {Humans / Amyotrophic Lateral Sclerosis: diagnostic imaging
                      / Amyotrophic Lateral Sclerosis: genetics / Bayes Theorem /
                      C9orf72 Protein: genetics / Frontotemporal Dementia:
                      genetics / Gray Matter: diagnostic imaging / Magnetic
                      Resonance Imaging / Mutation / Neuroimaging / Prospective
                      Studies / Superoxide Dismutase-1: genetics / C9orf72 Protein
                      (NLM Chemicals) / Amyotrophic lateral sclerosis (Other) /
                      Asymptomatic (Other) / Biomarker (Other) / C9orf72 (Other) /
                      Frontotemporal dementia (Other) / Magnetic resonance imaging
                      (MRI) (Other) / Pharmaceutical trials (Other) /
                      Presymptomatic (Other) / SOD1 (Other) / C9orf72 protein,
                      human (NLM Chemicals) / SOD1 protein, human (NLM Chemicals)
                      / Superoxide Dismutase-1 (NLM Chemicals)},
      cin          = {Clinical Study Center Ulm},
      ddc          = {610},
      cid          = {I:(DE-2719)5000077},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC10421803},
      pubmed       = {pmid:37178170},
      doi          = {10.1007/s00415-023-11764-5},
      url          = {https://pub.dzne.de/record/258909},
}