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Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis

Overview of attention for article published in Translational Neurodegeneration, April 2017
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (55th percentile)

Mentioned by

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2 tweeters

Citations

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21 Dimensions

Readers on

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15 Mendeley
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Title
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis
Published in
Translational Neurodegeneration, April 2017
DOI 10.1186/s40035-017-0079-3
Pubmed ID
Authors

Guo-hua Zhao, Xiao-min Liu

Abstract

The hereditary spastic paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders. Approximately 10% of the autosomal dominant (AD) HSPs (ADHSPs) have the spastic paraplegia 3A (SPG3A) genotype which is caused by ATL1 gene mutations. Currently there are more than 60 reported ATL1 gene mutations and the genotype-phenotype correlation remains unclear. The study aims to investigate the genotype-phenotype correlation in SPG3A patients. We performed a reanalysis of the clinical features and genotype-phenotype correlations in 51 reported studies exhibiting an ATL1 gene mutation. Most HSPs-SPG3A patients exhibited an early age at onset (AAO) of <10 years old, and showed an autosomal dominant pure spastic paraplegia. We found that 14% of the HSPs-SPG3A patients presented complicated phenotypes, with distal atrophy being the most common complicated symptom. The AAO of each mutation group was not statistically significant (P > 0.05). The mutational spectrum associated with ATL1 gene mutation is wide, and most mutations are missense mutations, but do not involve the functional motif of ATL1 gene encoded atlastin-1 protein. Our findings indicate that there is no clear genotype-phenotype correlation in HSPs-SPG3A patients. We also find that exons 4, 7, 8 and 12 are mutation hotspots in ATL1 gene.

Twitter Demographics

The data shown below were collected from the profiles of 2 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 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 3 20%
Student > Postgraduate 2 13%
Professor 1 7%
Researcher 1 7%
Student > Doctoral Student 1 7%
Other 0 0%
Unknown 7 47%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 4 27%
Medicine and Dentistry 3 20%
Neuroscience 1 7%
Unknown 7 47%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 13 April 2017.
All research outputs
#4,523,326
of 9,684,470 outputs
Outputs from Translational Neurodegeneration
#61
of 106 outputs
Outputs of similar age
#112,553
of 264,069 outputs
Outputs of similar age from Translational Neurodegeneration
#4
of 4 outputs
Altmetric has tracked 9,684,470 research outputs across all sources so far. This one has received more attention than most of these and is in the 51st percentile.
So far Altmetric has tracked 106 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 28.5. This one is in the 41st percentile – i.e., 41% 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 264,069 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 55% of its contemporaries.
We're also able to compare this research output to 4 others from the same source and published within six weeks on either side of this one.