Interferon-alpha and the calcifying microangiopathy in Aicardi-Goutieres syndrome

M.D. Klok, H.S. Bakels, N.L. Postma, R.M.L. van Spaendonk, M.S. van der Knaap, M. Bugiani

Research output: Contribution to journalArticleAcademicpeer-review

27 Citations (Scopus)


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 languageEnglish
Pages (from-to)774-779
JournalAnnals of clinical and translational neurology
Issue number7
Publication statusPublished - 2015

Cite this