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Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome

Overview of attention for article published in BMC Neurology, July 2018
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (52nd percentile)

Mentioned by

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6 tweeters

Citations

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9 Dimensions

Readers on

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36 Mendeley
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Title
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome
Published in
BMC Neurology, July 2018
DOI 10.1186/s12883-018-1103-7
Pubmed ID
Authors

Paolo Aretini, Chiara Maria Mazzanti, Marco La Ferla, Sara Franceschi, Francesca Lessi, Veronica De Gregorio, Claudia Nesti, Angelo Valetto, Veronica Bertini, Benedetta Toschi, Roberta Battini, Maria Adelaide Caligo

Abstract

Leigh Syndrome (LS, OMIM 256000) is an early-onset, progressive neurodegenerative disorder characterized by broad clinical and genetic heterogeneity; it is the most frequent disorder of mitochondrial energy production in children. LS inheritance is complex because patients may present mutations in mitochondrial DNA (mtDNA) or in nuclear genes, which predominantly encode proteins involved in respiratory chain structure and assembly or in coenzyme Q10 biogenesis. However, during the last 15 years, the discovery of several genetic mutations and improved knowledge of the natural history of LS has significantly increased our understanding of this mitochondrial disorder. Here we describe a 19-year-old male with clinical and neuroimaging LS diagnosed at 3 years of age. Genetic analyses of the whole mtDNA for maternally inherited LS (MILS) and neuropathy ataxia retinitis pigmentosa (NARP) syndrome failed to reveal any pathogenic mutations. Recently, a missense mutation in ECHS1 and a ~ 35 kb deletion in 10q26.3 involving the region including the gene were identified by WES (whole exome sequencing), uncovering the genetic diagnosis clinically hypothesized for 15 years. We also report the long-term follow-up of this patient, showing a comparison with classical LS or other Leigh-like pictures.

Twitter Demographics

The data shown below were collected from the profiles of 6 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 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 %
Researcher 9 25%
Student > Bachelor 6 17%
Other 4 11%
Student > Master 4 11%
Student > Ph. D. Student 2 6%
Other 2 6%
Unknown 9 25%
Readers by discipline Count As %
Medicine and Dentistry 7 19%
Biochemistry, Genetics and Molecular Biology 6 17%
Psychology 4 11%
Neuroscience 4 11%
Agricultural and Biological Sciences 2 6%
Other 2 6%
Unknown 11 31%

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 22 July 2018.
All research outputs
#9,094,281
of 16,534,657 outputs
Outputs from BMC Neurology
#761
of 1,845 outputs
Outputs of similar age
#130,788
of 281,696 outputs
Outputs of similar age from BMC Neurology
#1
of 1 outputs
Altmetric has tracked 16,534,657 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,845 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.0. This one has gotten more attention than average, scoring higher than 58% 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 281,696 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 52% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them