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The neuropathology associated with repeat expansions in the C9ORF72 gene

Overview of attention for article published in Acta Neuropathologica, December 2013
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (83rd percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

blogs
1 blog
twitter
1 tweeter

Citations

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90 Dimensions

Readers on

mendeley
120 Mendeley
Title
The neuropathology associated with repeat expansions in the C9ORF72 gene
Published in
Acta Neuropathologica, December 2013
DOI 10.1007/s00401-013-1232-4
Pubmed ID
Authors

Ian R. A. Mackenzie, Petra Frick, Manuela Neumann

Abstract

An abnormal expansion of a GGGGCC hexanucleotide repeat in a non-coding region of the chromosome 9 open reading frame 72 gene (C9ORF72) is the most common genetic abnormality in familial and sporadic FTLD and ALS and the cause in most families where both, FTLD and ALS, are inherited. Pathologically, C9ORF72 expansion cases show a combination of FTLD-TDP and classical ALS with abnormal accumulation of TDP-43 into neuronal and oligodendroglial inclusions consistently seen in the frontal and temporal cortex, hippocampus and pyramidal motor system. In addition, a highly specific feature in C9ORF72 expansion cases is the presence of ubiquitin and p62 positive, but TDP-43 negative neuronal cytoplasmic and intranuclear inclusions. These TDP-43 negative inclusions contain dipeptide-repeat (DPR) proteins generated by unconventional repeat-associated translation of C9ORF72 transcripts with the expanded repeats and are most abundant in the cerebellum, hippocampus and all neocortex regions. Another consistent pathological feature associated with the production of C9ORF72 transcripts with expanded repeats is the formation of nuclear RNA foci that are frequently observed in the frontal cortex, hippocampus and cerebellum. Here, we summarize the complexity and heterogeneity of the neuropathology associated with the C9ORF72 expansion. We discuss implications of the data to the current classification of FTLD and critically review current insights from clinico-pathological correlative studies regarding the fundamental questions as to what processes are required and sufficient to trigger neurodegeneration in C9ORF72 disease pathogenesis.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 120 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 <1%
United Kingdom 1 <1%
Brazil 1 <1%
United States 1 <1%
Czechia 1 <1%
Colombia 1 <1%
Unknown 114 95%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 35 29%
Researcher 20 17%
Student > Bachelor 17 14%
Student > Master 15 13%
Student > Doctoral Student 11 9%
Other 22 18%
Readers by discipline Count As %
Agricultural and Biological Sciences 34 28%
Neuroscience 29 24%
Medicine and Dentistry 28 23%
Biochemistry, Genetics and Molecular Biology 11 9%
Unspecified 7 6%
Other 11 9%

Attention Score in Context

This research output has an Altmetric Attention Score of 8. 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 19 December 2014.
All research outputs
#1,795,580
of 12,219,721 outputs
Outputs from Acta Neuropathologica
#396
of 1,532 outputs
Outputs of similar age
#36,596
of 227,333 outputs
Outputs of similar age from Acta Neuropathologica
#15
of 27 outputs
Altmetric has tracked 12,219,721 research outputs across all sources so far. Compared to these this one has done well and is in the 85th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,532 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 10.7. This one has gotten more attention than average, scoring higher than 74% 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 227,333 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 83% of its contemporaries.
We're also able to compare this research output to 27 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.