Hereditary Spastic Paraplegia
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.
KeywordsGenetic Counselor Lower Motor Neuron Hereditary Spastic Paraplegia Spinal Cord Tumor Autosomal Recessive
Hereditary spastic paraplegia (HSP) (MOV 397187 kb)
- 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.PubMedCentralPubMedCrossRefGoogle 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.PubMedCrossRefGoogle Scholar