Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Genetics
Volume 2015, Article ID 219691, 4 pages
http://dx.doi.org/10.1155/2015/219691
Case Report

Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia

1The Neuro-Genetics Institute, 501 Elmwood Avenue, Sharon Hill, PA 19079, USA
2Neuroscience Institute, Saint Francis Medical Center, 601 Hamilton Avenue, Trenton, NJ 08629, USA

Received 9 February 2015; Accepted 14 April 2015

Academic Editor: Mogens Fenger

Copyright © 2015 Leema Reddy Peddareddygari and Raji P. Grewal. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. P. Tarugi and M. Averna, “Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum,” Advances in Clinical Chemistry, vol. 54, pp. 81–107, 2011. View at Publisher · View at Google Scholar · View at Scopus
  2. M. K. Tsaousidou, K. Ouahchi, T. T. Warner et al., “Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration,” The American Journal of Human Genetics, vol. 82, no. 2, pp. 510–515, 2008. View at Publisher · View at Google Scholar · View at Scopus
  3. A. J. Hooper, B. Akinci, A. Comlekci, and J. R. Burnett, “Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia,” Clinica Chimica Acta, vol. 390, no. 1-2, pp. 152–155, 2008. View at Publisher · View at Google Scholar · View at Scopus
  4. G. Schonfeld, X. Lin, and P. Yue, “Familial hypobetalipoproteinemia: genetics and metabolism,” Cellular and Molecular Life Sciences, vol. 62, no. 12, pp. 1372–1378, 2005. View at Publisher · View at Google Scholar · View at Scopus
  5. J. R. Burnett, J. Shan, B. A. Miskie et al., “A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia,” The Journal of Biological Chemistry, vol. 278, no. 15, pp. 13442–13452, 2003. View at Publisher · View at Google Scholar · View at Scopus
  6. J. R. Burnett, S. Zhong, Z. G. Jiang et al., “Missense mutations in APOB within the βα1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia,” The Journal of Biological Chemistry, vol. 282, no. 33, pp. 24270–24283, 2007. View at Publisher · View at Google Scholar · View at Scopus
  7. R. Martín-Morales, J. D. García-Díaz, P. Tarugi et al., “Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene,” Gene, vol. 531, no. 1, pp. 92–96, 2013. View at Publisher · View at Google Scholar · View at Scopus