A converging-methods approach to fragile X syndrome

Converging approaches across domains of brain anatomy cell biology; and behavior indicate that Fragile X syndrome, arising from impaired expression of et 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 front Fragile X patients and in a knockout mouse model of the disease, synapse overproduction appears to occur unaccompanied by synapse pruning and maturation, leaving art 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: (C) 2002 Wiley Periodicals, Inc.