Elevation of proinflammatory cytokines in patients with Aicardi-Goutieres syndrome
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چکیده
منابع مشابه
MRI Features Predictive of Aicardi-Goutieres Syndrome.
Investigators from Children's National Health System Washington, DC, USA: Harvard University, Boston, USA; Leeds Teaching Hospitals, UK; and other international centers review a series of patients with MRIs selected from IRB-approved leukodystrophy biorepositories to identify MRI patterns for recognition of early-onset Aicardi-Goutieres (A-G) syndrome and scored for a panel of radiologic predic...
متن کاملTREX1 Dominant Mutations in Lupus and Aicardi-Goutieres Syndrome
Jason M. Fye, Clinton D. Orebaugh, Stephanie R. Coffin, Thomas Hollis, and Fred W. Perrino From the Department of Biochemistry, Wake Forest School of Medicine Winston-Salem, North Carolina 27157 Running head: TREX1 degrades dsDNA Address correspondence to: Fred W. Perrino, PhD, Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC 27157, Tel. 336–716–4349; Fax. 336–716–7...
متن کاملClinical and molecular phenotype of Aicardi-Goutieres syndrome.
Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127...
متن کاملAicardi-Goutieres syndrome: neuroradiologic findings and follow-up.
BACKGROUND AND PURPOSE To date, few studies have focused specifically on imaging findings in Aicardi-Goutières syndrome (AGS). We set out to evaluate retrospectively neuroradiologic data from a large sample of patients with AGS, focusing on the pattern of white matter abnormalities and the temporal evolution of the cerebral involvement to establish the radiologic natural history of the disease....
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ژورنال
عنوان ژورنال: Neurology
سال: 2013
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e3182872694