Abstract
Aicardi-Goutieres syndrome is a leukoencephalopathy with calcifications and increased cerebrospinal fluid interferon-alpha. The relation between interferon-alpha and brain pathology is poorly understood. We report a patient with mutations in the disease-associated gene SAMHD1. Neuropathology showed an extensive microangiopathy with calcifications consistently associated with blood vessels. In an in vitro model of the microangiopathy, interferon-alpha enhanced vascular smooth muscle cell-derived calcifications. The noninfarcted white matter harbored apoptotic oligodendrocytes and increased numbers of oligodendrocyte progenitors. These findings better define the white matter pathology and provide evidence that interferon-alpha plays a direct pathogenetic role in the calcifying angiopathy typical of this disease
Original language | English |
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Pages (from-to) | 774-779 |
Journal | Annals of clinical and translational neurology |
Volume | 2 |
Issue number | 7 |
DOIs | |
Publication status | Published - 2015 |