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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.

Keywords

  • Genetic Counselor
  • Lower Motor Neuron
  • Hereditary Spastic Paraplegia
  • Spinal Cord Tumor
  • Autosomal Recessive

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Fig. 15.1

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Correspondence to Alice B. Schindler .

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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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