Neuronal ceroid-lipofuscinoses

Dinesh Rakheja, Michael J. Bennett

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The neuronal ceroid-lipofuscinoses (NCLs) are a group of recessively inherited diseases characterized by progressive neuronal loss, accumulation of intracellular lipofuscin-like autofluorescent storage material with distinctive ultrastructural appearance, and clinical signs and symptoms of progressive neurodegeneration. Initially classified by the age of onset of clinical signs and symptoms as well as the ultrastructural morphology of the storage material, the growing family of NCLs can now also be biologically classified by their underlying genetic defects. For a few NCLs, we now understand the functions of the proteins encoded by the NCL genes, which has enabled refining of the diagnostic algorithms and ignited hopes for finding effective treatments in the future. Ongoing research into understanding the functions of the remainder of the NCL proteins as well as continuing advancements in technology (such as massively-parallel gene sequencing) has and will continue to inform the clinical approach, diagnostic algorithms, and treatment strategies.

Original languageEnglish (US)
Title of host publicationMetabolic Diseases
Subtitle of host publicationFoundations of Clinical Management, Genetics, and Pathology
PublisherIOS Press
Pages499-510
Number of pages12
ISBN (Electronic)9781614997184
ISBN (Print)9781614997177
DOIs
StatePublished - Jan 6 2017

Keywords

  • CLN
  • Electron microscopy
  • Enzyme assay
  • Gene sequencing
  • NCL
  • Neurodegeneration
  • Neuronal ceroid-lipofuscinoses

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Rakheja, D., & Bennett, M. J. (2017). Neuronal ceroid-lipofuscinoses. In Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology (pp. 499-510). IOS Press. https://doi.org/10.3233/978-1-61499-718-4-499