Literature DB >> 19525954

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

Marco Henneke1, Simone Diekmann, Andreas Ohlenbusch, Jens Kaiser, Volkher Engelbrecht, Alfried Kohlschütter, Ralph Krätzner, Marcos Madruga-Garrido, Michèle Mayer, Lennart Opitz, Diana Rodriguez, Franz Rüschendorf, Johannes Schumacher, Holger Thiele, Sven Thoms, Robert Steinfeld, Peter Nürnberg, Jutta Gärtner.   

Abstract

Congenital cytomegalovirus brain infection without symptoms at birth can cause a static encephalopathy with characteristic patterns of brain abnormalities. Here we show that loss-of-function mutations in the gene encoding the RNASET2 glycoprotein lead to cystic leukoencephalopathy, an autosomal recessive disorder with an indistinguishable clinical and neuroradiological phenotype. Congenital cytomegalovirus infection and RNASET2 deficiency may both interfere with brain development and myelination through angiogenesis or RNA metabolism.

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Year:  2009        PMID： 19525954     DOI： 10.1038/ng.398

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  13 in total

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8.  Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.

Authors:  M Henneke; N Preuss; V Engelbrecht; F Aksu; E Bertini; G Bibat; K Brockmann; C Hübner; M Mayer; V Mejaski-Bosnjak; S Naidu; E Neumaier-Probst; D Rodriguez; W Weisz; A Kohlschütter; J Gärtner
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Journal:  Nat Genet       Date:  2006-07-16       Impact factor: 38.330
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Review 9.  Systematic approaches to central nervous system myelin.

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10.  Sporadic ALS has compartment-specific aberrant exon splicing and altered cell-matrix adhesion biology.

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Journal:  Hum Mol Genet       Date:  2009-10-28       Impact factor: 6.150
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