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Hereditary Spastic Paraplegia

Chapter

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.

Supplementary material

Hereditary spastic paraplegia (HSP) (MOV 397187 kb)

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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Neurogenetics BranchNINDS/NIHBethesdaUSA

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