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Three novel mutations in 20 patients with hereditary spastic paraparesis

Overview of attention for article published in Neurological Sciences, June 2018
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Title
Three novel mutations in 20 patients with hereditary spastic paraparesis
Published in
Neurological Sciences, June 2018
DOI 10.1007/s10072-018-3454-7
Pubmed ID
Authors

Mehmet Bugrahan Duz, Selcuk Dasdemir, Aysel Kalayci Yigin, Mehmet Ali Akalin, Mehmet Seven

Abstract

Hereditary spastic paraparesis (HSP) constitutes both genetic and clinically heterogeneous group of upper motor neuron diseases. Half of the individuals with autosomal dominant (AD) HSP have mutations in SPAST, ATL1, and REEP1 genes. This study was conducted to elucidate the genetic etiology of patients with the pure type AD-HSP diagnosis. The patient group consisted of 23 individuals from 6 families in Turkey. In the first step of work, Sanger sequencing (SS) was performed in ATL1, SPAST, and REEP1 genes and the second phase whole-exome sequencing (WES) was performed following SS analysis for the patients with no detected mutations in these genes. The results of this study revealed that in ATL1, 6 patients have previously reported c.776C > A mutation and 6 patients have novel c.470 T > C mutation. In SPAST, 3 patients have novel c.1072G > C mutation and 2 patients have novel c.1099-1G > C mutation. WES was performed in three patients, who had no detected mutation in these genes with SS analysis. In this approach, as previously reported c.1859 T > C mutation in KIAA0196 was detected, and it was confirmed with the patient's relatives by SS. In three of patients, no HSP-associated variant could be identified in SS and WES. With this study, the molecular genetic etiology in 20 of 23 (87%) individuals that were included in this study with the utilization of SS and WES was elucidated. Utilization of SS and WES methods have enabled the identification of genetic etiology of HSP further with appropriate genetic counseling that was provided to the patients.

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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 4 21%
Student > Master 3 16%
Student > Doctoral Student 1 5%
Student > Bachelor 1 5%
Lecturer 1 5%
Other 4 21%
Unknown 5 26%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 4 21%
Nursing and Health Professions 3 16%
Medicine and Dentistry 3 16%
Psychology 1 5%
Neuroscience 1 5%
Other 0 0%
Unknown 7 37%
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 22 June 2018.
All research outputs
#17,155,195
of 25,988,468 outputs
Outputs from Neurological Sciences
#490
of 784 outputs
Outputs of similar age
#204,347
of 331,398 outputs
Outputs of similar age from Neurological Sciences
#1
of 1 outputs
Altmetric has tracked 25,988,468 research outputs across all sources so far. This one is in the 31st percentile – i.e., 31% of other outputs scored the same or lower than it.
So far Altmetric has tracked 784 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.3. 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 331,398 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 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