Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers

J Neuroimaging. 2019 Sep;29(5):624-629. doi: 10.1111/jon.12642. Epub 2019 Jun 7.

Abstract

Background and purpose: The objective of this study was to longitudinally investigate the trajectory of change in 1 H MRS measurements in asymptomatic MAPT mutation carriers who became symptomatic during follow-up, and to determine the time at which the neurochemical alterations accelerated during disease progression.

Methods: We identified eight MAPT mutations carriers who transitioned from asymptomatic to symptomatic disease during follow-up. All participants were longitudinally followed with an average of 7.75 years (range 4-11 years) and underwent two or more single voxel 1 H MRS examinations from the posterior cingulate voxel, with a total of 60 examinations. The rate of longitudinal change for each metabolite was estimated using linear mixed models. A flex point model was used to estimate the flex time point of the change in slope.

Results: The decrease in the NAA/mI ratio accelerated 2.09 years prior to symptom onset, and continued to decline. A similar trajectory was observed in the presumed glial marker mI/Cr ratio accelerating 1.86 years prior to symptom onset.

Conclusions: Our findings support the potential use of longitudinal 1 H MRS for monitoring the neurodegenerative progression in MAPT mutation carriers starting from the asymptomatic stage.

Keywords: MAPT; MRS; converter; frontotemporal lobar degeneration; longitudinal.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Biomarkers / metabolism
  • Brain / diagnostic imaging
  • Brain / metabolism*
  • Disease Progression
  • Female
  • Frontotemporal Lobar Degeneration / diagnostic imaging
  • Frontotemporal Lobar Degeneration / genetics
  • Frontotemporal Lobar Degeneration / metabolism*
  • Heterozygote
  • Humans
  • Longitudinal Studies
  • Magnetic Resonance Spectroscopy / methods
  • Male
  • Middle Aged
  • Mutation*
  • tau Proteins / genetics*

Substances

  • Biomarkers
  • MAPT protein, human
  • tau Proteins