Background: Tissue gene expression profiling with arrays measures the transcription of thousands of genes. However, this approach cannot be readily used to guide clinical neurologic practice. Objectives: To determine whether clinical neurologic diseases are associated with unique patterns of up- and down-regulated genes in whole blood and to explore the possibility of using peripheral blood as a surrogate tissue in these diseases. Design: Case-control study. Setting: University-based pediatric and adult neurology clinics. Participants: Patients with neurofibromatosis type 1, epilepsy, or Tourette syndrome diagnosed using traditional clinical criteria; controls without disease; and controls with neurologic disease. Main Outcome Measure: Blood gene expression levels of greater than 12000 genes, measured using U95A arrays. Results: Neurofibromatosis type 1 and childhood epilepsy treated with carbamazepine or valproic acid are associated with distinct patterns of blood gene expression. Patients with valproic acid-responsive vs valproic acid-refractory epilepsy formed distinct subclusters. Tourette syndrome was characterized by several gene expression clusters. In 1 cluster, 6 genes - all associated with immune cell function - were overexpressed. Conclusion: Blood gene expression profiling can provide surrogate markers for neurologic diseases without obvious blood phenotypes.
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