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1097-41997752013Mar06NeuronNeuronThe unstable repeats--three evolving faces of neurological disease.825843825-4310.1016/j.neuron.2013.02.022S0896-6273(13)00180-3Disorders characterized by expansion of an unstable nucleotide repeat account for a number of inherited neurological diseases. Here, we review examples of unstable repeat disorders that nicely illustrate three of the major pathogenic mechanisms associated with these diseases: loss of function typically by disrupting transcription of the mutated gene, RNA toxic gain of function, and protein toxic gain of function. In addition to providing insight into the mechanisms underlying these devastating neurological disorders, the study of these unstable microsatellite repeat disorders has provided insight into very basic aspects of neuroscience.Copyright © 2013 Elsevier Inc. All rights reserved.NelsonDavid LDLDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. nelson@bcm.eduOrrHarry THTWarrenStephen TSTengR37 HD020521HDNICHD NIH HHSUnited StatesNS022920NSNINDS NIH HHSUnited StatesHD024064HDNICHD NIH HHSUnited StatesR01 NS022920NSNINDS NIH HHSUnited StatesNS051630NSNINDS NIH HHSUnited StatesP30 HD024064HDNICHD NIH HHSUnited StatesR37 NS022920NSNINDS NIH HHSUnited StatesNS045667NSNINDS NIH HHSUnited StatesR01 NS051630NSNINDS NIH HHSUnited StatesHD020521HDNICHD NIH HHSUnited StatesR01 NS045667NSNINDS NIH HHSUnited StatesR01 HD020521HDNICHD NIH HHSUnited StatesJournal ArticleResearch Support, N.I.H., ExtramuralReview
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