Magnetic Resonance Spectroscopy in Huntington’s Disease

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Abstract

Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease with complete penetrance. Although the understanding of the cellular mechanisms that drive neurodegeneration in HD and account for the characteristic pattern of neuronal vulnerability is incomplete, defects in energy metabolism, particularly mitochondrial function, represent a common thread in studies of HD pathogenesis in animal models and humans. Here we review the metabolic dysfunction captured by in vivo proton and phosphorus magnetic resonance spectroscopy (MRS) in animal models of HD and human carriers of the mutated huntingtin protein. Having access to a presymptomatic population of individuals gives a unique possibility of approaching early pathophysiological changes in HD. Although longitudinal studies are needed to determine more precisely the time course of these metabolic changes in humans, MRS tools are already used in clinical trials to obtain proof of concepts of the ability of disease-modifying drugs to impact on disease progression in HD.

Original languageEnglish (US)
Title of host publicationContemporary Clinical Neuroscience
PublisherSpringer Nature
Pages103-120
Number of pages18
DOIs
StatePublished - 2016

Publication series

NameContemporary Clinical Neuroscience
ISSN (Print)2627-535X
ISSN (Electronic)2627-5341

Bibliographical note

Publisher Copyright:
© 2016, Springer International Publishing Switzerland.

Keywords

  • Caudate
  • Energy metabolism
  • Huntington’s disease
  • Putamen

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