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Genetic Counseling for Adult Neurogenetic Disease pp 195–207Cite as

Hereditary Spastic Paraplegia

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Abstract

Hereditary spastic paraplegia (HSP) refers to a group of inherited disorders characterized by the loss of upper motor neurons, resulting in progressive, lower limb spasticity and weakness. HSPs are classified as pure/uncomplicated or complicated, and vary in symptoms, severity, age of onset, and genetic etiology. Over 50 loci have been associated with the HSPs and include autosomal dominant, autosomal recessive, and X-linked genes. Genetic counseling is complicated by inter- and intra-familial variability, incomplete penetrance, and de novo mutations. This chapter reviews the different types of HSPs and how best to counsel for genetic testing.

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References

  1. Harding, A. E. (1983). Classification of the hereditary ataxias and paraplegias. Lancet, 1(8334), 1151–1155.

    Article  PubMed  Google Scholar 

  2. Blackstone, C. (2012). Cellular pathways of hereditary spastic paraplegia. Annual Review of Neuroscience, 35, 25–47.

    Article  PubMed  Google Scholar 

  3. McMonagle, P., Webb, S., & Hutchinson, M. (2002). The prevalence of “pure” autosomal dominant hereditary spastic paraparesis in the island of Ireland. Journal of Neurology, Neurosurgery, and Psychiatry, 72(1), 43–46.

    Article  PubMed Central  PubMed  Google Scholar 

  4. Orlacchio, A., Kawarai, T., Totaro, A., Errico, A., St George-Hyslop, P. H., Rugarli, E. I., et al. (2004). Hereditary spastic paraplegia: Clinical genetic study of 15 families. Archives of Neurology, 61(6), 849–855.

    Article  PubMed  Google Scholar 

  5. Schüle, R., & Schöls, L. (2011). Genetics of hereditary spastic paraplegias. Seminars in Neurology, 31(5), 484–493.

    Article  PubMed  Google Scholar 

  6. Fink, J. K., & Hedera, P. (1999). Hereditary spastic paraplegia: Genetic heterogeneity and genotype-phenotype correlation. Seminars in Neurology, 19(3), 301–309.

    Article  PubMed  Google Scholar 

  7. Ngudi, D. D., Kuo, Y. H., Van Montagu, M., & Lambein, F. (2012). Research on motor neuron diseases konzo and neurolathyrism: Trends from 1990 to 2010. PLoS Neglected Tropical Diseases, 6(7), e1759.

    Article  PubMed Central  PubMed  Google Scholar 

  8. Kenwrick, S., Ionasescu, V., Ionasescu, G., Searby, C., King, A., Dubowitz, M., et al. (1986). Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Human Genetics, 73(3), 264–266.

    Article  PubMed  Google Scholar 

  9. Fonknechten, N., Mavel, D., Byrne, P., Davoine, C. S., Cruaud, C., Bönsch, D., et al. (2000). Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Human Molecular Genetics, 9(4), 637–644.

    Article  PubMed  Google Scholar 

  10. Sauter, S., Miterski, B., Klimpe, S., Bönsch, D., Schöls, L., Visbeck, A., et al. (2002). Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Human Mutation, 20(2), 127–132.

    Article  PubMed  Google Scholar 

  11. Depienne, C., Tallaksen, C., Lephay, J. Y., Bricka, B., Poea-Guyon, S., Fontaine, B., et al. (2006). Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases. Journal of Medical Genetics, 43(3), 259–265.

    Article  PubMed Central  PubMed  Google Scholar 

  12. Alvarez, V., Sánchez-Ferrero, E., Beetz, C., Díaz, M., Alonso, B., Corao, A. I., et al. (2010). Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. BMC Neurology, 10, 89.

    PubMed Central  PubMed  Google Scholar 

  13. Magariello, A., Muglia, M., Patitucci, A., Ungaro, C., Mazzei, R., Gabriele, A. L., et al. (2010). Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia. Journal of Neurological Sciences, 288(1–2), 96–100.

    Article  Google Scholar 

  14. Dürr, A., Camuzat, A., Colin, E., Tallaksen, C., Hannequin, D., Coutinho, P., et al. (2004). Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Archives of Neurology, 61(12), 1867–1872.

    Article  PubMed  Google Scholar 

  15. Hehr, U., Bauer, P., Winner, B., Schule, R., Olmez, A., Koehler, W., et al. (2007). Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Annals of Neurology, 62(6), 656–665.

    Article  PubMed  Google Scholar 

  16. Stevanin, G., Azzedine, H., Denora, P., Boukhris, A., Tazir, M., Lossos, A., et al. (2008). Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain, 131(Pt 3), 772–784.

    Article  PubMed  Google Scholar 

  17. Goizet, C., Boukhris, A., Maltete, D., Guyant-Maréchal, L., Truchetto, J., Mundwiller, E., et al. (2009). SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology, 73(14), 1111–1119.

    Article  PubMed  Google Scholar 

  18. Schüle, R., Brandt, E., Karle, K. N., Tsaousidou, M., Klebe, S., Klimpe, S., et al. (2009). Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. Neurogenetics, 10(2), 97–104.

    Article  PubMed  Google Scholar 

  19. Schüle, R., & Schöls, L. (2011). Genetics of hereditary spastic paraplegias. Seminars in Neurology, 31(5), 484–493.

    Article  PubMed  Google Scholar 

  20. Goizet, C., Boukhris, A., Durr, A., Beetz, C., Truchetto, J., Tesson, C., et al. (2009). CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain, 132(Pt 6), 1589–1600.

    Article  PubMed  Google Scholar 

  21. Schlipf, N. A., Schüle, R., Klimpe, S., Karle, K. N., Synofzik, M., Schicks, J., et al. (2011). Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. Clinical Genetics, 80(2), 148–160.

    Article  PubMed  Google Scholar 

  22. Arnoldi, A., Crimella, C., Tenderini, E., Martinuzzi, A., D’Angelo, M. G., Musumeci, O., et al. (2012). Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. Clinical Genetics, 81(2), 150–157.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Neurogenetics Branch, NINDS/NIH, 10 Center Drive, Building 10 Room 5S-219, Bethesda, MD, 20892-1671, USA

    Alice B. Schindler

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  1. Alice B. Schindler
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Correspondence to Alice B. Schindler .

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Editors and Affiliations

  1. Taub Institute, Columbia University Medical Center, New York, New York, USA

    Jill S. Goldman

1 Electronic Supplementary Material

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Hereditary spastic paraplegia (HSP) (MOV 397187 kb)

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Schindler, A.B. (2015). Hereditary Spastic Paraplegia. In: Goldman, J. (eds) Genetic Counseling for Adult Neurogenetic Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7482-2_15

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