Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Diffuse central neuronal involvement in Fabry disease: a proton MRS imaging study.

G Tedeschi1, S Bonavita, T K Banerjee

  • 1Neuroimaging Branch, NINDS, National Institutes of Health, Bethesda, MD, USA.

Neurology
|May 20, 1999
PubMed
Summary

Proton magnetic resonance spectroscopy imaging (1H-MRSI) reveals widespread neuronal damage in Fabry disease (FD), even in areas without visible MRI abnormalities. This technique may aid in evaluating treatment effectiveness for FD.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Pregnancy effect on disease activity in women with multiple sclerosis treated with cladribine.

Journal of neurology·2024
Same author

Sexual dysfunction in multiple sclerosis: The impact of different MSISQ-19 cut-offs on prevalence and associated risk factors.

Multiple sclerosis and related disorders·2023
Same author

Whole-Brain Propagation Delays in Multiple Sclerosis, a Combined Tractography-Magnetoencephalography Study.

The Journal of neuroscience : the official journal of the Society for Neuroscience·2022
Same author

Influence of light and flow on taxon composition and photosynthesis of marine phototrophic biofilm in photobioreactors.

Marine environmental research·2021
Same author

Digital therapeutics in neurology.

Journal of neurology·2021
Same author

Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.

Molecular genetics and metabolism·2021

Area of Science:

  • Neuroimaging
  • Neurometabolism
  • Genetic disorders

Background:

  • Assessing parenchymal involvement is crucial for understanding disease burden.
  • Proton magnetic resonance spectroscopy imaging (1H-MRSI) allows simultaneous measurement of key brain metabolites like N-acetylaspartate (NA).
  • NA is a putative neuron-specific molecule, making it a valuable marker for neuronal health.

Purpose of the Study:

  • To investigate cortical and subcortical neuropathology in individuals with Fabry disease (FD).
  • To evaluate the utility of 1H-MRSI in detecting neuronal involvement in FD.

Main Methods:

  • Selected regions of interest (ROIs) across cortical and subcortical areas in nine FD patients.
  • Compared mean metabolite ratios from ROIs with those of healthy control subjects.

Related Experiment Videos

  • Utilized 1H-MRSI to measure metabolite levels in vivo.

    • Main Results:

    • FD patients exhibited a widespread reduction in N-acetylaspartate (NA) in both cortical and subcortical regions.
    • Seven out of nine FD patients displayed distinct MRI abnormalities, including white matter hyperintensities or basal ganglia infarcts.
    • The NA reduction pattern in FD suggests diffuse neuronal involvement.

    Conclusions:

    • Fabry disease involves diffuse neuronal damage extending beyond visible cerebrovascular abnormalities on MRI.
    • 1H-MRSI demonstrates potential as a valuable tool for assessing neuropathology in FD.
    • This imaging technique could be instrumental in future therapeutic trials for Fabry disease.