% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Dammann:119321,
      author       = {P. Dammann and K. Wrede and Y. Zhu and T. Matsushige and S.
                      Maderwald and L. Umutlu and H. H. Quick and U. Hehr and M.
                      Rath and M. Ladd$^*$ and U. Felbor and U. Sure},
      title        = {{C}orrelation of the venous angioarchitecture of multiple
                      cerebral cavernous malformations with familial or sporadic
                      disease: a susceptibility-weighted imaging study with
                      7-{T}esla {MRI}.},
      journal      = {Journal of neurosurgery},
      volume       = {126},
      number       = {2},
      issn         = {0022-3085},
      address      = {Charlottesville, Va.},
      publisher    = {American Assoc. of Neurological Surgeons},
      reportid     = {DKFZ-2017-00076},
      pages        = {570 - 577},
      year         = {2017},
      abstract     = {OBJECTIVE Multiple cerebral cavernous malformations (CCMs)
                      are rare lesions that occur in sporadic or familial form.
                      Depending on the disease form, the natural history and
                      treatment of the lesions strongly vary. Molecular analysis
                      of an underlying germline mutation (CCM1-3) is the most
                      sensitive screening method to distinguish between sporadic
                      and familial cases. However, based on the different
                      pathomechanisms that are believed to be involved in either
                      form, significant distinctions in the CCM-associated
                      cerebral venous angioarchitecture should be detectable. This
                      has not been systematically studied. METHODS A consecutive
                      series of 28 patients with multiple CCMs (681 total)
                      diagnosed on 1.5-T MRI underwent genetic screening for
                      CCM1-3 mutations and high-resolution susceptibility-weighted
                      imaging (SWI) of the cerebral venous angioarchitecture with
                      7-T MRI. Imaging data were analyzed to examine the
                      CCM-associated venous angioarchitecture. Results were
                      correlated with findings of molecular analysis for CCM1-3
                      mutations. RESULTS Two different SWI patterns (sporadic and
                      familial) were found. The presence of associated
                      developmental venous anomalies correlated with negative
                      screening for germline mutations (11 sporadic) in all cases.
                      All patients with confirmed familial disease showed normal
                      underlying venous angioarchitecture. Additionally, a very
                      unusual case of a probable somatic mutation is presented.
                      CONCLUSIONS The SWI results of the venous angioarchitecture
                      of multiple CCMs correlate with sporadic or familial
                      disease. These results are consistent with the theory that
                      venous anomalies are causative for the sporadic form of
                      multiple CCMs.},
      cin          = {E020},
      ddc          = {610},
      cid          = {I:(DE-He78)E020-20160331},
      pnm          = {315 - Imaging and radiooncology (POF3-315)},
      pid          = {G:(DE-HGF)POF3-315},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:27153162},
      doi          = {10.3171/2016.2.JNS152322},
      url          = {https://inrepo02.dkfz.de/record/119321},
}