Open AccessInterferon‐ α and the calcifying microangiopathy in Aicardi–Goutières syndrome
Author(s) -
Klok Melanie D.,
Bakels Hannah S.,
Postma Nienke L.,
Spaendonk Rosalina M. L.,
Knaap Marjo S.,
Bugiani Marianna
Publication year - 2015
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.213
Subject(s) - medicine , pathology , microangiopathy , neuropathology , angiopathy , interferon , white matter , leukoencephalopathy , multiple sclerosis , immunology , disease , magnetic resonance imaging , diabetes mellitus , endocrinology , radiology
Aicardi–Goutières syndrome is a leukoencephalopathy with calcifications and increased cerebrospinal fluid interferon‐ α . The relation between interferon‐ α and brain pathology is poorly understood. We report a patient with mutations in the disease‐associated gene SAMHD 1 . Neuropathology showed an extensive microangiopathy with calcifications consistently associate with blood vessels. In an in vitro model of the microangiopathy, interferon‐ α 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‐ α plays a direct pathogenetic role in the calcifying angiopathy typical of this disease.