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Genes 2014, 5(3), 586-603; doi:10.3390/genes5030586

Genes and Genetic Testing in Hereditary Ataxias

1
Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI 48109, USA
2
Departments of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
3
Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA
4
Department of Psychiatry, University of Michigan, Ann Arbor, MI 48109, USA
*
Author to whom correspondence should be addressed.
Received: 28 April 2014 / Revised: 25 June 2014 / Accepted: 1 July 2014 / Published: 22 July 2014
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
View Full-Text   |   Download PDF [107 KB, uploaded 22 July 2014]

Abstract

Ataxia is a neurological cerebellar disorder characterized by loss of coordination during muscle movements affecting walking, vision, and speech. Genetic ataxias are very heterogeneous, with causative variants reported in over 50 genes, which can be inherited in classical dominant, recessive, X-linked, or mitochondrial fashion. A common mechanism of dominant ataxias is repeat expansions, where increasing lengths of repeated DNA sequences result in non-functional proteins that accumulate in the body causing disease. Greater understanding of all ataxia genes has helped identify several different pathways, such as DNA repair, ubiquitination, and ion transport, which can be used to help further identify new genes and potential treatments. Testing for the most common mutations in these genes is now clinically routine to help with prognosis and treatment decisions, but next generation sequencing will revolutionize how genetic testing will be done. Despite the large number of known ataxia causing genes, however, many individuals with ataxia are unable to obtain a genetic diagnosis, suggesting that more genes need to be discovered. Utilization of next generation sequencing technologies, expression studies, and increased knowledge of ataxia pathways will aid in the identification of new ataxia genes. View Full-Text
Keywords: ataxia; genetics; pathways; testing ataxia; genetics; pathways; testing
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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Sandford, E.; Burmeister, M. Genes and Genetic Testing in Hereditary Ataxias. Genes 2014, 5, 586-603.

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