title: A converging-methods approach to fragile X syndrome.
abstract: Converging approaches across domains of brain anatomy, cell biology, and behavior indicate that Fragile X syndrome, arising from impaired expression of a single gene and protein, appears to involve an aberration of normal developmental processes. Synapse overproduction and selective elimination, or pruning, characterize normal brain development. In autopsy tissue from Fragile X patients and in a knockout mouse model of the disease, synapse overproduction appears to occur unaccompanied by synapse pruning and maturation, leaving an excess of immature spine synapses in place. The absence of the Fragile X protein seems to impair the synthesis of important proteins at synapses. The developmental outcome in Fragile X is a nervous system that is relatively disorganized, resulting in disrupted perceptual, and cognitive social, behavior.
authors.affiliation: Beckman Institute, Neuroscience Program and Department of Psychology, University of Illinois, Urbana, IL 61801, USA.
authors.forename: James D
authors.initials: JD
authors.lastname: Churchill
authors.forename: Aaron W
authors.initials: AW
authors.lastname: Grossman
authors.forename: Scott A
authors.initials: SA
authors.lastname: Irwin
authors.forename: Roberto
authors.initials: R
authors.lastname: Galvez
authors.forename: Anna Y
authors.initials: AY
authors.lastname: Klintsova
authors.forename: Ivan Jeanne
authors.initials: IJ
authors.lastname: Weiler
authors.forename: William T
authors.initials: WT
authors.lastname: Greenough
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D001921:Brain / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D004195:Disease Models, Animal; D005260:Female; D005600:Fragile X Syndrome / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D051379:Mice