↓ Skip to main content

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
Altmetric Badge

About this Attention Score

  • Average Attention Score compared to outputs of the same age

Mentioned by

twitter
2 X users

Citations

dimensions_citation
27 Dimensions

Readers on

mendeley
19 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
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.

X Demographics

X Demographics

The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 19 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 3 16%
Unspecified 1 5%
Student > Doctoral Student 1 5%
Professor 1 5%
Student > Master 1 5%
Other 2 11%
Unknown 10 53%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 4 21%
Medicine and Dentistry 3 16%
Neuroscience 1 5%
Social Sciences 1 5%
Unknown 10 53%
Attention Score in Context

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
#15,173,117
of 25,382,440 outputs
Outputs from Translational Neurodegeneration
#314
of 384 outputs
Outputs of similar age
#170,349
of 323,891 outputs
Outputs of similar age from Translational Neurodegeneration
#4
of 5 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 38th percentile – i.e., 38% of other outputs scored the same or lower than it.
So far Altmetric has tracked 384 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 29.7. This one is in the 17th percentile – i.e., 17% 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 323,891 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 45th percentile – i.e., 45% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 5 others from the same source and published within six weeks on either side of this one.