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Tandem Repeat Polymorphisms pp 185–203Cite as

Polyalanine Tract Disorders and Neurocognitive Phenotypes

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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.

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Authors and Affiliations

  1. Department of Genetics and Molecular Pathology, SA Pathology at the Women’s and Children’s Hospital, North Adelaide, South Australia, Australia

    Cheryl Shoubridge & Jozef Gecz

  2. Department of Pediatrics, University of Adelaide, Adelaide, South Australia, Australia

    Cheryl Shoubridge & Jozef Gecz

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  1. Cheryl Shoubridge
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  2. Jozef Gecz
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Correspondence to Cheryl Shoubridge .

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  1. Florey Neuroscience Institutes, Melbourne Brain Centre, University of Melbourne, Parkville, Victoria, Australia

    Anthony J. Hannan Phd

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Shoubridge, C., Gecz, J. (2012). Polyalanine Tract Disorders and Neurocognitive Phenotypes. In: Hannan, A.J. (eds) Tandem Repeat Polymorphisms. Advances in Experimental Medicine and Biology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-5434-2_12

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