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Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His

Overview of attention for article published in Acta Neuropathologica Communications, July 2015
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Title
Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His
Published in
Acta Neuropathologica Communications, July 2015
DOI 10.1186/s40478-015-0219-x
Pubmed ID
Authors

John L. Robinson, EunRan Suh, Elisabeth M. Wood, Edward B. Lee, H. Branch Coslett, Kevin Raible, Virginia M.-Y. Lee, John Q. Trojanowski, Vivianna M. Van Deerlin

Abstract

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) presents with a variety of clinical phenotypes including motor impairments such as gait dysfunction, rigidity, tremor and bradykinesia as well as cognitive deficits including personality changes and dementia. In recent years, colony stimulating factor 1 receptor gene (CSF1R) has been identified as the primary genetic cause of HDLS. We describe the clinical and neuropathological features in three siblings with HDLS and the CSF1R p.Arg782His (c.2345G > A) pathogenic mutation. Each case had varied motor symptoms and clinical features, but all included slowed movements, poor balance, memory impairment and frontal deficits. Neuroimaging with magnetic resonance imaging revealed atrophy and increased signal in the deep white matter. Abundant white matter spheroids and CD68-positive macrophages were the predominant pathologies in these cases. Similar to other cases reported in the literature, the three cases described here had varied clinical phenotypes with a pronounced, but heterogeneous distribution of axonal spheroids and distinct microglia morphology. Our findings underscore the critical importance of genetic testing for establishing a clinical and pathological diagnosis of HDLS.

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 36 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 36 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 8 22%
Student > Ph. D. Student 6 17%
Researcher 5 14%
Student > Master 4 11%
Professor > Associate Professor 2 6%
Other 3 8%
Unknown 8 22%
Readers by discipline Count As %
Medicine and Dentistry 8 22%
Agricultural and Biological Sciences 7 19%
Neuroscience 5 14%
Biochemistry, Genetics and Molecular Biology 3 8%
Nursing and Health Professions 3 8%
Other 3 8%
Unknown 7 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 05 July 2015.
All research outputs
#2,821,788
of 5,314,359 outputs
Outputs from Acta Neuropathologica Communications
#171
of 269 outputs
Outputs of similar age
#102,874
of 186,852 outputs
Outputs of similar age from Acta Neuropathologica Communications
#15
of 16 outputs
Altmetric has tracked 5,314,359 research outputs across all sources so far. This one is in the 33rd percentile – i.e., 33% of other outputs scored the same or lower than it.
So far Altmetric has tracked 269 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.6. This one is in the 28th percentile – i.e., 28% of its peers scored the same or lower than it.
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 186,852 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 35th percentile – i.e., 35% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 16 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.