↓ Skip to main content

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy

Overview of attention for article published in American Journal of Neuroradiology, January 2018
Altmetric Badge

About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (59th percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

twitter
5 tweeters

Citations

dimensions_citation
2 Dimensions

Readers on

mendeley
10 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy
Published in
American Journal of Neuroradiology, January 2018
DOI 10.3174/ajnr.a5507
Pubmed ID
Authors

L.L. Gramegna, A. Pisano, C. Testa, D.N. Manners, R. D'Angelo, E. Boschetti, F. Giancola, L. Pironi, L. Caporali, M. Capristo, M.L. Valentino, G. Plazzi, C. Casali, M.T. Dotti, G. Cenacchi, M. Hirano, C. Giordano, P. Parchi, R. Rinaldi, R. De Giorgio, R. Lodi, V. Carelli, C. Tonon

Abstract

Mitochondrial neurogastrointestinal encephalopathy is a rare disorder due to recessive mutations in the thymidine phosphorylase gene, encoding thymidine phosphorylase protein required for mitochondrial DNA replication. Clinical manifestations include gastrointestinal dysmotility and diffuse asymptomatic leukoencephalopathy. This study aimed to elucidate the mechanisms underlying brain leukoencephalopathy in patients with mitochondrial neurogastrointestinal encephalopathy by correlating multimodal neuroradiologic features to postmortem pathology. Seven patients underwent brain MR imaging, including single-voxel proton MR spectroscopy and diffusion imaging. Absolute concentrations of metabolites calculated by acquiring unsuppressed water spectra at multiple TEs, along with diffusion metrics based on the tensor model, were compared with those of healthy controls using unpaired t tests in multiple white matters regions. Brain postmortem histologic, immunohistochemical, and molecular analyses were performed in 1 patient. All patients showed bilateral and nearly symmetric cerebral white matter hyperintensities on T2-weighted images, extending to the cerebellar white matter and brain stem in 4. White matter, N-acetylaspartate, creatine, and choline concentrations were significantly reduced compared with those in controls, with a prominent increase in the radial water diffusivity component. At postmortem examination, severe fibrosis of brain vessel smooth muscle was evident, along with mitochondrial DNA replication depletion in brain and vascular smooth-muscle and endothelial cells, without neuronal loss, myelin damage, or gliosis. Prominent periependymal cytochrome C oxidase deficiency was also observed. Vascular functional and histologic alterations account for leukoencephalopathy in mitochondrial neurogastrointestinal encephalopathy. Thymidine toxicity and mitochondrial DNA replication depletion may induce microangiopathy and blood-brain-barrier dysfunction, leading to increased water content in the white matter. Periependymal cytochrome C oxidase deficiency could explain prominent periventricular impairment.

Twitter Demographics

The data shown below were collected from the profiles of 5 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 10 100%

Demographic breakdown

Readers by professional status Count As %
Unspecified 4 40%
Professor 2 20%
Student > Master 1 10%
Researcher 1 10%
Professor > Associate Professor 1 10%
Other 1 10%
Readers by discipline Count As %
Unspecified 5 50%
Neuroscience 3 30%
Nursing and Health Professions 1 10%
Biochemistry, Genetics and Molecular Biology 1 10%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 30 May 2019.
All research outputs
#6,942,163
of 13,434,955 outputs
Outputs from American Journal of Neuroradiology
#1,464
of 3,378 outputs
Outputs of similar age
#136,659
of 349,114 outputs
Outputs of similar age from American Journal of Neuroradiology
#56
of 103 outputs
Altmetric has tracked 13,434,955 research outputs across all sources so far. This one is in the 47th percentile – i.e., 47% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,378 research outputs from this source. They receive a mean Attention Score of 4.5. This one has gotten more attention than average, scoring higher than 55% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 349,114 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 59% of its contemporaries.
We're also able to compare this research output to 103 others from the same source and published within six weeks on either side of this one. This one is in the 44th percentile – i.e., 44% of its contemporaries scored the same or lower than it.