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Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder
Department of Neurology, The McKnight Brain Institute, University of Florida, Gainesville, FL 32610, USA
* Author to whom correspondence should be addressed.
Received: 2 July 2012; in revised form: 24 July 2012 / Accepted: 26 July 2012 / Published: 30 July 2012
Abstract: Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disease with a spectrum of phenotypes. SCA10 is caused by a pentanucleotide repeat expansion of the ATTCT motif within intron 9 of ATAXIN 10 (ATXN10). Patients present with cerebellar ataxia; however, a subset also develops epileptic seizures which significantly contribute to the morbidity and mortality of the disease. Past research from our lab has demonstrated that epileptic SCA10 patients predominantly originate from or have ancestral ties to Mexico. In addition, a large proportion of epileptic SCA10 patients carry repeat interruptions within their SCA10 expansion. This paper outlines the variability in SCA10 phenotypes and our attempts to model these phenotypes using transgenic mouse models and highlights the benefits of using a transgenic model organism to understand the pathological mechanisms of a human disease.
Keywords: RNA-mediated gain-of-function; genotype-phenotype correlations; autosomal dominant cerebellar ataxia; repeat expansion
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McFarland, K.N.; Ashizawa, T. Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder. Genes 2012, 3, 481-491.
McFarland KN, Ashizawa T. Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder. Genes. 2012; 3(3):481-491.
McFarland, Karen N.; Ashizawa, Tetsuo. 2012. "Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder." Genes 3, no. 3: 481-491.