Genotype-phenotype correlations in cerebral cavernous malformations patients.

  title={Genotype-phenotype correlations in cerebral cavernous malformations patients.},
  author={Christian Denier and Pierre Labauge and Françoise Bergametti and Florence Marchelli and Florence Riant and Minh Arnoult and Jacqueline Maciazek and {\'E}ric Vicaut and Laurent Brunereau and Elisabeth Tournier-Lasserve},
  journal={Annals of neurology},
  volume={60 5},
OBJECTIVE To compare clinical features of CCM1, CCM2, and CCM3 mutation carriers. METHODS A detailed clinical and molecular analysis of 163 consecutive cerebral cavernous malformation (CCM) families was performed. RESULTS A deleterious mutation was detected in 128 probands. Three hundred thirty-three mutation carriers were identified (238 CCM1, 67 CCM2, and 28 CCM3). Ninety-four percent of the probands with an affected relative had a mutation compared with 57% of the probands with multiple… CONTINUE READING