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Chapter 29 - Hereditary Spastic Paraplegia-Related Inborn Errors of Metabolism

from Section II - A Metabolism-Based Approach to Movement Disorders and Inherited Metabolic Disorders

Published online by Cambridge University Press:  24 September 2020

By
Henry Houlden ,
Sarah Wiethoff  and
Thomas Bourinaris
Edited by
Darius Ebrahimi-Fakhari  and
Phillip L. Pearl
Darius Ebrahimi-Fakhari
Affiliation:
Harvard Medical School
Phillip L. Pearl
Affiliation:
Harvard Medical School
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Summary

Hereditary spastic paraplegias (HSPs) represent a large and heterogeneous group of inherited disorders, presenting with a phenotype that is predominated by lower limb spasticity and weakness, often accompanied by pyramidal-tract signs and neurogenic bladder dysfunction. This phenotype is typically associated with the degeneration of the corticospinal tract that leads to the hallmark manifestations of the condition. The HSPs have been traditionally divided into pure and complicated forms.

Type
Chapter
Information
Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
 , pp. 348 - 364
Publisher: Cambridge University Press
Print publication year: 2020

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