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Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier

Overview of attention for article published in Cerebellum & Ataxias, March 2018
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (64th percentile)

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6 tweeters

Citations

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29 Mendeley
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Title
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier
Published in
Cerebellum & Ataxias, March 2018
DOI 10.1186/s40673-018-0086-x
Pubmed ID
Authors

Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich

Abstract

Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of CAG/CAA repeat in the Tata binding protein (TBP) gene. Normal alleles contain 25 to 40 CAG/CAA repeats, alleles with 50 or greater CAG/CAA repeats are pathological with full penetrance. Alleles with 43 to 49 CAG/CAA repeats were also reported and their penetrance is estimated between 50 and 80%. Recently few symptomatic individuals having 41 and 42 repeats were reported but it is still unclear whether CAG/CAA repeats of 41 or 42 are low penetrance disease-causing alleles. Thus, phenotypic variability like the disease course in subject with SCA17 locus restricted expansions remains to be fully understood. The patients was a 63-year-old woman who, at 54 years, showed personality changes and increased frequency of falls. At 55 years of age neuropsychological tests showed executive attention and visuospatial deficit. At the age of 59 the patient developed dysarthria and a progressive cognitive deficit. The neurological examination showed moderate gait ataxia, dysdiadochokinesia and dysmetria, dysphagia, dysarthria and abnormal saccadic pursuit, severe axial asynergy during postural changes, choreiform dyskinesias. Molecular analysis of theTBPgene demonstrated an allele with 41 repeat suggesting that 41 CAG/CCGTBPrepeats could be an allele associated with the full clinical spectrum of SCA17. The described case with the other similar cases described in the literature suggests that 41 CAG/CAA trinucleotides should be considered as critical threshold in SCA17. We suggest that SCA17 diagnosis should be suspected in patients presenting with movement disorders associated with other neurodegenerative signs and symptoms.

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 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 29 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 17%
Student > Bachelor 3 10%
Student > Ph. D. Student 3 10%
Other 2 7%
Student > Postgraduate 2 7%
Other 5 17%
Unknown 9 31%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 4 14%
Psychology 3 10%
Neuroscience 3 10%
Nursing and Health Professions 2 7%
Medicine and Dentistry 2 7%
Other 5 17%
Unknown 10 34%

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 23 March 2018.
All research outputs
#4,652,534
of 15,922,425 outputs
Outputs from Cerebellum & Ataxias
#20
of 87 outputs
Outputs of similar age
#99,705
of 281,061 outputs
Outputs of similar age from Cerebellum & Ataxias
#1
of 1 outputs
Altmetric has tracked 15,922,425 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 87 research outputs from this source. They receive a mean Attention Score of 3.1. This one has done well, scoring higher than 77% 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 281,061 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 64% 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