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Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression by Holger Thiele; Marcel du Moulin; Katarzyna Barczyk; Christel George; Wolfram Schwindt; Gudrun Nürnberg; Michael Frosch; Gerhard Kurlemann; Johannes Roth; Peter Nürnberg; Frank Rutsch is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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Aicardi-Goutières syndrome (AGS) is a rare inborn multisystemic disease, resembling intrauterine viral infection and resulting in psychomotor retardation, spasticity and chilblain-like skin lesions. Diagnostic criteria include intracerebral calcifications and elevated interferon-alpha and pterin levels in cerebrospinal fluid (CSF). We report on four adult siblings with unknown neurodegenerative disease presenting with cerebrovascular stenoses, stroke and glaucoma in childhood, two of whom died at the age of 40 and 29 years. Genome-wide homozygosity mapping identified 170 candidate genes embedded in a common haplotype of 8Mb on chromosome 20q11-13. Next generation sequencing of the entire region identified the c.490C>T (p.Arg164X) mutation in __SAMHD1__, a gene most recently described in AGS, on both alleles in all affected siblings. Clinical diagnosis of AGS was then confirmed by demonstrating intracerebral calcifications on cranial computed tomography in all siblings and elevated pterin levels in CSF in three of them. In patient fibroblasts, lack of SAMHD1 protein expression was associated with increased basal expression of __IL8__, while stimulated expression of __IFNB1__ was red

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Author

Holger Thiele; Marcel du Moulin; Katarzyna Barczyk; Christel George; Wolfram Schwindt; Gudrun Nürnberg; Michael Frosch; Gerhard Kurlemann; Johannes Roth; Peter Nürnberg; Frank Rutsch

Publisher

Hindawi Limited

Published

2010

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)