Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression

@inproceedings{Thiele2010CerebralAS,
  title={Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Gouti{\`e}res Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression},
  author={Holger Thiele and Marcel du Moulin and Katarzyna Barczyk and Christel George and Wolfram Schwindt and Gudrun Nuernberg and Michael Frosch and Gerhard Kurlemann and Johannes Roth and Peter N{\"u}rnberg and Frank Rutsch},
  booktitle={Human mutation},
  year={2010}
}
Aicardi-Goutières syndrome (AGS) is a rare inborn multisystemic disease, resembling intrauterine viral infection and resulting in psychomotor retardation, spasticity and chilblain-likeskin lesions. Diagnostic criteria include intracerebral calcifications and elevated interferon-alpha and pterin levels in cerebrospinal fluid (CSF). We report on four adult… CONTINUE READING