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

Elevated CNS average diffusion constant in Fabry disease.

D F Moore1, R Schiffmann, A M Ulug

  • 1Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Clinical Center, National Institutes of Health, Bethesda, MD 20892-1260, USA.

Acta Paediatrica (Oslo, Norway : 1992). Supplement
|February 8, 2003
PubMed
Summary
This summary is machine-generated.

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

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

Molecular genetics and metabolism·2021
Same author

5-Year Update of a Multi-Institution, Prospective Phase 2 Hypofractionated Postmastectomy Radiation Therapy Trial.

International journal of radiation oncology, biology, physics·2020
Same author

<i>GJA1</i> Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.

AJNR. American journal of neuroradiology·2019
Same author

Longitudinal evaluation of diffusion tensor imaging and cognition in systemic lupus erythematosus.

Lupus·2018
Same author

Solar particle event storm shelter requirements for missions beyond low Earth orbit.

Life sciences in space research·2018
Same author

A double-blind, placebo-controlled randomized trial of creatine for the cancer anorexia/weight loss syndrome (N02C4): an Alliance trial.

Annals of oncology : official journal of the European Society for Medical Oncology·2017
Same journal

Policy and science in children's health and environment: recommendations from the PINCHE project.

Acta paediatrica (Oslo, Norway : 1992). Supplement·2006
Same journal

Exposure to multiple environmental agents and their effect.

Acta paediatrica (Oslo, Norway : 1992). Supplement·2006
Same journal

Air pollution: a threat to the health of our children.

Acta paediatrica (Oslo, Norway : 1992). Supplement·2006
Same journal

Environmental tobacco smoke exposure and children's health.

Acta paediatrica (Oslo, Norway : 1992). Supplement·2006
Same journal

Ionizing radiation and children's health: conclusions.

Acta paediatrica (Oslo, Norway : 1992). Supplement·2006
Same journal

Adverse health effects of children's exposure to pesticides: what do we really know and what can be done about it.

Acta paediatrica (Oslo, Norway : 1992). Supplement·2006
See all related articles

Patients with Fabry disease show increased average brain diffusion constant (Dav), indicating higher water diffusivity. This finding supports the hypothesis of increased cerebral blood flow in this genetic disorder.

Area of Science:

  • Neurology
  • Radiology
  • Genetics

Background:

  • Fabry disease is an X-linked disorder causing globotriaosylceramide accumulation.
  • Cerebral blood vessel accumulation leads to hyperperfusion in Fabry disease.
  • Increased perfusion may elevate interstitial water via the Starling relationship.

Purpose of the Study:

  • To evaluate the average brain diffusion constant (Dav) in Fabry disease patients.
  • To test the hypothesis that increased cerebral blood flow elevates interstitial water.

Main Methods:

  • Diffusion-weighted magnetic resonance imaging (DWI) was used to measure Dav.
  • Eight healthy males and 17 hemizygous Fabry disease patients were studied.
  • Dav was calculated by fitting diffusion distribution curves with multi-modal Gaussian functions.

Related Experiment Videos

Main Results:

  • The average Dav was significantly increased in Fabry disease patients (0.743 x 10(-5) cm2/s) compared to controls (0.726 x 10(-5) cm2/s).
  • The p-value for the difference was 0.029.
  • This indicates higher brain tissue water diffusivity in patients.

Conclusions:

  • Elevated Dav in Fabry disease suggests increased brain tissue water diffusivity.
  • This finding is consistent with increased extracellular water.
  • The results support the association between Fabry disease and increased cerebral blood flow.