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Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease

Overview of attention for article published in Cerebellum & Ataxias, February 2015
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Title
Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease
Published in
Cerebellum & Ataxias, February 2015
DOI 10.1186/s40673-015-0020-4
Pubmed ID
Authors

Yanetza González-Zaldívar, Yaimeé Vázquez-Mojena, José M Laffita-Mesa, Luis E Almaguer-Mederos, Roberto Rodríguez-Labrada, Gilberto Sánchez-Cruz, Raúl Aguilera-Rodríguez, Tania Cruz-Mariño, Nalia Canales-Ochoa, Patrick MacLeod, Luis Velázquez-Pérez

Abstract

Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) is a hereditary neurodegenerative disorder resulting from the expansion of CAG repeats in the ATXN3 gene. It is the most common autosomal dominant ataxia in the world, but its frequency prevalence in Cuba remains uncertain. We undertook a national study in order to characterize the ATXN3 gene and to determine the prevalence of SCA3/MJD in Cuba. Twenty-two individuals belonging to 8 non-related families were identified as carriers of an expanded ATXN3 allele. The affected families come from the central and western region of the country. Ataxia of gait was the initial symptom in all of the cases. The normal alleles ranged between 14 and 33 CAG repeats while the expanded ones ranged from 63 to 77 repeats. The mean age at onset was 40 ± 9 years and significantly correlated with the number of CAG repeats in the expanded alleles. This disorder was identified as the second most common form of spinocerebellar ataxia (SCA) in Cuba based on molecular testing, and showing a different geographical distribution from that of SCA2. This research constitutes the first clinical and molecular characterization of Cuban SCA3 families, opening the way for the implementation of predictive diagnosis for at risk family members.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
China 1 4%
Brazil 1 4%
Unknown 23 92%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 5 20%
Researcher 4 16%
Student > Bachelor 3 12%
Other 3 12%
Student > Master 3 12%
Other 4 16%
Unknown 3 12%
Readers by discipline Count As %
Medicine and Dentistry 8 32%
Neuroscience 4 16%
Agricultural and Biological Sciences 4 16%
Biochemistry, Genetics and Molecular Biology 2 8%
Nursing and Health Professions 2 8%
Other 2 8%
Unknown 3 12%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 05 September 2015.
All research outputs
#2,963,473
of 6,287,927 outputs
Outputs from Cerebellum & Ataxias
#16
of 34 outputs
Outputs of similar age
#105,210
of 194,428 outputs
Outputs of similar age from Cerebellum & Ataxias
#2
of 3 outputs
Altmetric has tracked 6,287,927 research outputs across all sources so far. This one is in the 30th percentile – i.e., 30% of other outputs scored the same or lower than it.
So far Altmetric has tracked 34 research outputs from this source. They receive a mean Attention Score of 3.2. This one scored the same or higher as 18 of them.
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