The unstable repeats-Three evolving faces of neurological disease

David L. Nelson; Harry T. Orr; Stephen T. Warren

doi:10.1016/j.neuron.2013.02.022

The unstable repeats-Three evolving faces of neurological disease

David L. Nelson, Harry T. Orr, Stephen T. Warren

Laboratory Medicine and Pathology

Research output: Contribution to journal › Review article › peer-review

170 Scopus citations

Abstract

Disorders 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.

Original language	English (US)
Pages (from-to)	825-843
Number of pages	19
Journal	Neuron
Volume	77
Issue number	5
DOIs	https://doi.org/10.1016/j.neuron.2013.02.022
State	Published - 2013

Bibliographical note

Funding Information:
The authors’ work in this area was supported by grants from the N.I.H. (NS022920 & NS045667, H.T.O.; HD020521 and HD024064, S.T.W.; NS051630 and HD024064, D.L.N.) Figures were drawn with assistance of J. Frisch.

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AB - Disorders 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.

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The unstable repeats-Three evolving faces of neurological disease

Abstract

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