Hereditary Spastic Paraplegia (HSP) includes a group of familial diseases that are characterized by progressive degeneration of the corticospinal tracts responsible for movement and sensation. HSPs are differentiated into “pure” forms if there is bladder involvement and “complicated” if there are additional neurologic or systemic abnormalities. The genetic classification of HSP is based upon the mode of inheritance, chromosomal locus, and causative mutation. Modes of inheritance include autosomal dominant, autosomal recessive and X-linked forms. The correlation of clinical classification with genetic classification is not yet defined as some genetic types of HSP are associated with both pure and complex phenotypes.
The Igenomix Hereditary Spastic Paraplegia Precision Panel can serve as an accurate and directed diagnostic tool as well as a differential diagnosis of muscle weakness ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The Igenomix Hereditary Spastic Paraplegia Precision Panel is indicated in patients with a clinical suspicion or diagnosis presenting with or without the following manifestations:
The clinical utility of this panel is:
Novarino, G., Fenstermaker, A., Zaki, M., Hofree, M., Silhavy, J., & Heiberg, A. et al. (2014). Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders. Science, 343(6170), 506-511. doi: 10.1126/science.1247363
Fink, J. (2013). Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathologica, 126(3), 307-328. doi: 10.1007/s00401-013-1115-8
Chase, A. (2014). Exome sequencing sheds light on hereditary spastic paraplegia. Nature Reviews Neurology, 10(3), 124-124. doi: 10.1038/nrneurol.2014.27
Depienne, C., Stevanin, G., Brice, A., & Durr, A. (2007). Hereditary spastic paraplegias: an update. Current Opinion In Neurology, 20(6), 674-680. doi: 10.1097/wco.0b013e3282f190ba
Züchner, S. (2007). The genetics of hereditary spastic paraplegia and implications for drug therapy. Expert Opinion On Pharmacotherapy, 8(10), 1433-1439. doi: 10.1517/14656566.8.10.1433
Orlacchio, A., Kawarai, T., Totaro, A., Errico, A., St George-Hyslop, P., Rugarli, E., & Bernardi, G. (2004). Hereditary Spastic Paraplegia. Archives Of Neurology, 61(6), 849. doi: 10.1001/archneur.61.6.849
