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Interferon-α and the calcifying microangiopathy in Aicardi-Goutières syndrome.

Authors
  • Klok, Melanie D
  • Bakels, Hannah S
  • Postma, Nienke L
  • van Spaendonk, Rosalina M L
  • van der Knaap, Marjo S
  • Bugiani, Marianna
Type
Published Article
Journal
Annals of Clinical and Translational Neurology
Publisher
Wiley (John Wiley & Sons)
Publication Date
Jul 01, 2015
Volume
2
Issue
7
Pages
774–779
Identifiers
DOI: 10.1002/acn3.213
PMID: 26273690
Source
Medline
License
Unknown

Abstract

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 SAMHD1. 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.

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