| Literature DB >> 10827106 |
Y J Crow1, A P Jackson, E Roberts, E van Beusekom, P Barth, P Corry, C D Ferrie, B C Hamel, R Jayatunga, G Karbani, R Kálmánchey, A Kelemen, M King, R Kumar, J Livingstone, R Massey, R McWilliam, A Meager, C Rittey, J B Stephenson, J L Tolmie, A Verrips, T Voit, H van Bokhoven, H G Brunner, C G Woods.
Abstract
We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset progressive encephalopathy that was characterized by a normal head circumference at birth, basal ganglia calcification, negative viral studies, and abnormalities of cerebrospinal fluid comprising either raised white cell counts and/or raised levels of interferon-alpha. By means of genomewide linkage analysis, a maximum-heterogeneity LOD score of 5.28 was reached at marker D3S3563, with alpha=.48, where alpha is the proportion of families showing linkage. Our data suggest the existence of locus heterogeneity in Aicardi-Goutières syndrome and highlight potential difficulties in the differentiation of this condition from pseudo-TORCH (toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus types 1 and 2) syndrome.Entities:
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Year: 2000 PMID： 10827106 PMCID： PMC1287108 DOI： 10.1086/302955
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025