Cree encephalitis is allelic with Aicardi-Goutières syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.

Access to files

Full-text and supplementary files are not available from Manchester eScholar. Full-text is available externally using the following links:

Abstract

Aicardi-Goutières syndrome (AGS) is an early onset, progressive encephalopathy characterised by calcification of the basal ganglia, white matter abnormalities, and a chronic cerebrospinal fluid (CSF) lymphocytosis. Cree encephalitis shows phenotypic overlap with AGS although the conditions have been considered distinct because of immunological abnormalities observed in Cree encephalitis. We report that levels of interferon alpha (IFN-alpha), a marker of AGS, are raised in Cree encephalitis. Moreover, linkage analysis indicates that the disorders are allelic and refines the AGS1 locus to a 3.47 cM critical interval. Our data show that a CSF lymphocytosis is not necessary for the diagnosis of AGS and strongly suggest that AGS and pseudo-TORCH syndrome are the same disorder. Recognition of immunological dysfunction as part of the AGS phenotype provides further evidence of a primary pathogenic role for abnormal IFN-alpha production in AGS.

Keyword(s)

Child; Family Health; Female; Haplotypes; Humans; Indians, North American; Lod Score; Male; Microsatellite Repeats; Pedigree; Phenotype; Syndrome; blood: Abnormalities, Multiple; blood: Encephalitis; blood: Interferon-alpha; cerebrospinal fluid: Lymphocytosis; genetics: Chromosomes, Human, Pair 3; genetics: Genetic Predisposition to Disease; pathology: Basal Ganglia Diseases; pathology: Brain Damage, Chronic; pathology: Calcinosis

Bibliographic metadata

Institutional metadata

Record metadata