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Chapter 15 - Lysosomal Storage Disorders: Neuronal Ceroid Lipofuscinoses and Movement Disorders

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

Published online by Cambridge University Press:  24 September 2020

By
Jennifer Vermilion ,
Jonathan W. Mink  and
Erika F. Augustine
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

The neuronal ceroid lipofuscinoses (NCLs) are rare, inherited, neurodegenerative, fatal lysosomal diseases of childhood caused by mutations in various genes. Although NCLs comprise more than 10 distinct diseases, they share core signs and symptoms: vision loss, epilepsy, dementia, and movement disorders [1–]. Pathologically, NCLs are characterized by lysosomal accumulation of autofluorescent ceroid lipopigments []. These accumulations result in different ultrastructural inclusion patterns on electron microscopy in the various NCL forms. Most NCL genes encode for proteins involved in lysosomal or secretory cellular pathways [].

Type
Chapter
Information
Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
 , pp. 202 - 214
Publisher: Cambridge University Press
Print publication year: 2020

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