Chapter 11 - Inherited Disorders of Human Memory—Mental Retardation Syndromes

Abstract

This chapter covers disorders of human cognition, specifically related to memory formation. It provides three examples of convergence of basic memory research with clinical investigation, highlighting neurofibromatosis mental retardation, Angelman syndrome, and fragile Xmental retardation. Studies of NF1-associated learning deficits, Coffin–Lowry Syndrome, and Rubinstein–Taybi Syndrome have implicated the ras/ERK pathway and its targets in human memory formation. Studies of Angelman mental retardation syndrome have implicated hippocampal LTP and CaMKII regulation as necessary for human learning and memory formation. Disruptions of the regulation of metabotropic glutamate receptor-mediated LTD in the hippocampus with related alterations in the control of protein synthesis, have led to the mGluRtheory of fragile Xmental retardation. All of these studies illustrate a striking convergence of animal studies of the roles of specific molecular and cellular processes underlying memory with recent studies of the molecular and cellular basis of human learning and memory disorders.