作者: Melanie D. Klok , Hannah S. Bakels , Nienke L. Postma , Rosalina M. L. Spaendonk , Marjo S. Knaap
DOI: 10.1002/ACN3.213
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摘要: Aicardi–Goutieres syndrome is a leukoencephalopathy with calcifications and increased cerebrospinal fluid interferon-α. The relation between interferon-α brain pathology poorly understood. We report patient mutations in the disease-associated gene SAMHD1. Neuropathology showed an extensive microangiopathy consistently associate blood vessels. In in vitro model of microangiopathy, enhanced vascular smooth muscle cell-derived calcifications. noninfarcted white matter harbored apoptotic oligodendrocytes numbers oligodendrocyte progenitors. These findings better define provide evidence that plays direct pathogenetic role calcifying angiopathy typical this disease.