Monia B. Hammer, Ghada Eleuch-Fayache, Lucia V

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Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity Monia B. Hammer, Ghada Eleuch-Fayache, Lucia V. Schottlaender, Houda Nehdi, J. Raphael Gibbs, Sampath K. Arepalli, Sean B. Chong, Dena G. Hernandez, Anna Sailer, Guoxiang Liu, Pramod K. Mistry, Huaibin Cai, Ginamarie Shrader, Celeste Sassi, Yosr Bouhlal, Henry Houlden, Fayçal Hentati, Rim Amouri, Andrew B. Singleton The American Journal of Human Genetics Volume 92, Issue 2, Pages 245-251 (February 2013) DOI: 10.1016/j.ajhg.2012.12.012 Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of Four Families with ARCA Affected family members are shaded. Males are represented by squares, females are represented by circles. Mutation status is denoted as follows: WT, wild-type; mt, mutant. The American Journal of Human Genetics 2013 92, 245-251DOI: (10.1016/j.ajhg.2012.12.012) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 2 GBA2 Mutations Detected Illustration of GBA2, which comprises 17 exons. The three mutations identified are located in exons 2, 5, and 17. In the middle portion of the figure, sequence chromatograms are shown for each of the different mutations identified. Amino acid alignment via ClustalW is shown in the lower portion of the figure and illustrates the sequence conservation across species. The American Journal of Human Genetics 2013 92, 245-251DOI: (10.1016/j.ajhg.2012.12.012) Copyright © 2013 The American Society of Human Genetics Terms and Conditions