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Heritability of saccadic eye movements in spinocerebellar ataxia type 2: insights into an endophenotype marker

Overview of attention for article published in Cerebellum & Ataxias, December 2017
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  • Above-average Attention Score compared to outputs of the same age (59th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (57th percentile)

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5 tweeters

Citations

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6 Dimensions

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15 Mendeley
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Title
Heritability of saccadic eye movements in spinocerebellar ataxia type 2: insights into an endophenotype marker
Published in
Cerebellum & Ataxias, December 2017
DOI 10.1186/s40673-017-0078-2
Pubmed ID
Authors

Roberto Rodríguez-Labrada, Yaimeé Vázquez-Mojena, Nalia Canales-Ochoa, Jacqueline Medrano-Montero, Luis Velázquez-Pérez

Abstract

Saccade slowing has been proposed as endophenotype marker in Spinocerebellar Ataxia type 2 (SCA2), nevertheless the heritability of this trait has not been properly demonstrated. Thus the present paper was aimed to assess the heritability of different saccadic parameters in SCA2. Forty-eight SCA2 patients, 25 preclinical carriers and 24 non-SCA2 mutation carriers underwent electronystagmographical assessments of saccadic eye movements as well as neurological examination and ataxia scoring. Estimates of heritability based on the intraclass correlation coefficients were calculated for saccade velocity, accuracy and latency as well as for age at disease onset from 36, 17 and 15 sibling pairs of SCA2 patients, preclinical carriers and controls, respectively. Saccade velocity was significantly reduced in SCA2 patients and preclinical carriers, whereas decreased saccade accuracy and increased saccade latency were only observed in the patients cohort. Intraclass correlation coefficient for saccade velocity was highly significant in SCA2 patients, estimating a heritability around 94%, whereas for the age at ataxia onset this estimate was around 68%. Electronystagmographical measure of saccade velocity showed higher familial aggregation between SCA2 patients leading the suitability of this disease feature as endophenotype marker, with potential usefulness for the search of modifier genes and neurobiological underpinnings of the disease and as outcome measure in future neuroprotective clinical trials.

Twitter Demographics

The data shown below were collected from the profiles of 5 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 %
Researcher 3 20%
Librarian 3 20%
Student > Master 2 13%
Student > Ph. D. Student 2 13%
Unspecified 1 7%
Other 0 0%
Unknown 4 27%
Readers by discipline Count As %
Medicine and Dentistry 4 27%
Neuroscience 3 20%
Psychology 1 7%
Unspecified 1 7%
Social Sciences 1 7%
Other 1 7%
Unknown 4 27%

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 24 July 2018.
All research outputs
#8,355,306
of 15,922,193 outputs
Outputs from Cerebellum & Ataxias
#28
of 87 outputs
Outputs of similar age
#163,095
of 409,149 outputs
Outputs of similar age from Cerebellum & Ataxias
#8
of 19 outputs
Altmetric has tracked 15,922,193 research outputs across all sources so far. This one is in the 47th percentile – i.e., 47% of other outputs scored the same or lower than it.
So far Altmetric has tracked 87 research outputs from this source. They receive a mean Attention Score of 3.1. This one has gotten more attention than average, scoring higher than 66% 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 409,149 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 59% of its contemporaries.
We're also able to compare this research output to 19 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 57% of its contemporaries.