Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/75995
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Type: Book chapter
Title: Polyalanine tract disorders and neurocognitive phenotypes
Author: Shoubridge, C.
Gecz, J.
Citation: Tandem Repeat Polymorphisms: Genetic Plasticity, Neural Diversity and Disease, 2012 / Hannan, A. (ed./s), pp.185-203
Publisher: Springer
Publisher Place: United States
Issue Date: 2012
Series/Report no.: Advances in Experimental Medicine and Biology; 769
ISBN: 9781461454335
Statement of
Responsibility: 
Cheryl Shoubridge and Jozef Gecz
Abstract: Expansion of polyalanine tracts cause at least 9 inherited human diseases. Eight of these nine diseases are due to expansions in transcription factors and give rise to congenital disorders, many with neurocognitive phenotypes. Disease causing expansions vary in length depending upon the gene in question, with the severity of the associated clinical phenotype generally increasing with length of the polyalanine tract. The past decade has seen considerable progress in the understanding on how these mutations may arise and the functional effect of expanded polyalanine tracts on the resulting protein. Despite this progress, the pathogenic mechanism of expanded polyalanine tracts contributing to the associated disease states remains poorly understood. Gaining insights into the mechanisms that underlie the pathogenesis of different expanded polyalanine tract mutations will be a necessary step on the path to the design of potential treatment strategies for the associated diseases.
Keywords: Humans; Genetic Diseases, Inborn; Peptides; Transcription Factors; Severity of Illness Index; Cognition Disorders; Trinucleotide Repeat Expansion; Phenotype; Genetic Association Studies
RMID: 0020118672
DOI: 10.1007/978-1-4614-5434-2_12
Description (link): http://www.landesbioscience.com/books/special/id/3667/
Appears in Collections:Paediatrics publications

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