Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis and Spinal Muscular Atrophy

Michael J. Strong, Tibor Hortobágyi, Koichi Okamoto, Shinsuke Kato

Research output: Chapter in Book/Report/Conference proceedingChapter

14 Citations (Scopus)

Abstract

The motor neuron diseases collectively are disorders in which degeneration of the upper and lower motor neurons, either separately or in combination, give rise to a progressive loss of muscle function. The most common variant of adult onset is amyotrophic lateral sclerosis, a complex multisystem disorder in which multiple biological processes are impaired. The disease is neuropathologically characterized by motor neuron degeneration that includes a variety of intraneuronal inclusions of proteinaceous material. Both microglia and astrocytes contribute to the pathology. In 30-60% of patients, features of a frontotemporal degeneration are observed. Between 8-10% of amyotrophic lateral sclerosis cases are familial, including mutations in SOD1, TDP-43, FUS/TLS, ANG and senataxin. There is increasing evidence that alterations in RNA metabolism are of pathogenic importance.

Original languageEnglish
Title of host publicationNeurodegeneration
Subtitle of host publicationThe Molecular Pathology of Dementia and Movement Disorders: Second Edition
PublisherWiley Blackwell
Pages418-433
Number of pages16
ISBN (Print)9781405196932
DOIs
Publication statusPublished - Sep 21 2011

Keywords

  • FUS/TLS
  • Frontotemporal degeneration
  • Motor neuron disease
  • Neurodegeneration
  • Neurofilament
  • RNA metabolism
  • SMN
  • SOD1
  • TDP-43

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Strong, M. J., Hortobágyi, T., Okamoto, K., & Kato, S. (2011). Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis and Spinal Muscular Atrophy. In Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders: Second Edition (pp. 418-433). Wiley Blackwell. https://doi.org/10.1002/9781444341256.ch44