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Magnetic Resonance Spectroscopy in Huntington’s Disease

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Part of the Contemporary Clinical Neuroscience book series (CCNE)

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.

Keywords

Huntington’s disease Caudate Putamen Energy metabolism 

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Copyright information

© Springer International Publishing Switzerland 2016

Authors and Affiliations

  1. 1.Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS UMR 7225Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127ParisFrance
  2. 2.Département de GénétiqueSalpêtrière University HospitalParisFrance
  3. 3.Groupe de Recherche Clinique NeurométaboliqueUniversité Pierre and Marie CurieParisFrance
  4. 4.Department of NeuroscienceUniversity of MinnesotaMinneapolisUSA
  5. 5.Department of Radiology, Center for Magnetic Resonance ResearchUniversity of MinnesotaMinneapolisUSA

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