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Case Reports in Genetics
Volume 2015 (2015), Article ID 219691, 4 pages
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.


Complicated hereditary spastic paraplegia (HSP) presents with complex neurological and nonneurological manifestations. We report a patient with autosomal recessive (AR) HSP in whom laboratory investigations revealed hypobetalipoproteinemia raising the possibility of a shared pathophysiology of these clinical features. A lipid profile of his parents disclosed a normal maternal lipid profile. However, the paternal lipid profile was similar to that of the patient suggesting autosomal dominant transmission of this trait. Whole exome sequence analysis was performed and novel mutations were detected in both the SPG11 and the APOB genes. Genetic testing of the parents showed that both APOB variants were inherited from the father while the SPG11 variants were inherited one from each parent. Our results indicate that, in this patient, the hypobetalipoproteinemia and spastic paraplegia are unrelated resulting from mutations in two independent genes. This clinical study provides support for the use of whole exome sequencing as a diagnostic tool for identification of mutations in conditions with complex presentations.