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Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report

Overview of attention for article published in BMC Neurology, October 2011
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Title
Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report
Published in
BMC Neurology, October 2011
DOI 10.1186/1471-2377-11-131
Pubmed ID
Authors

Conceição Bettencourt, Cristina Santos, Paula Coutinho, Patrizia Rizzu, João Vasconcelos, Teresa Kay, Teresa Cymbron, Mafalda Raposo, Peter Heutink, Manuela Lima

Abstract

Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene. This disease presents clinical heterogeneity, which cannot be completely explained by the size of the repeat tract. MJD presents extrapyramidal motor signs, namely parkinsonism, more frequently than the other subtypes of autosomal dominant cerebellar ataxias. Although parkinsonism seems to segregate within MJD families, only a few MJD patients develop parkinsonian features and, therefore, the clinical and genetic aspects of these rare presentations remain poorly investigated. The main goal of this work was to describe two MJD patients displaying the parkinsonian triad (tremor, bradykinesia and rigidity), namely on what concerns genetic variation in Parkinson's disease (PD) associated loci (PARK2, LRRK2, PINK1, DJ-1, SNCA, MAPT, APOE, and mtDNA tRNA(Gln) T4336C).

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Portugal 1 2%
Brazil 1 2%
Unknown 42 95%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 9 20%
Researcher 8 18%
Student > Master 6 14%
Professor 3 7%
Student > Bachelor 2 5%
Other 8 18%
Unknown 8 18%
Readers by discipline Count As %
Medicine and Dentistry 11 25%
Agricultural and Biological Sciences 8 18%
Neuroscience 5 11%
Biochemistry, Genetics and Molecular Biology 4 9%
Immunology and Microbiology 1 2%
Other 2 5%
Unknown 13 30%
Attention Score in Context

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 24 October 2011.
All research outputs
#15,237,301
of 22,655,397 outputs
Outputs from BMC Neurology
#1,473
of 2,408 outputs
Outputs of similar age
#95,793
of 140,299 outputs
Outputs of similar age from BMC Neurology
#26
of 38 outputs
Altmetric has tracked 22,655,397 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,408 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.8. This one is in the 26th percentile – i.e., 26% 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 140,299 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 19th percentile – i.e., 19% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 38 others from the same source and published within six weeks on either side of this one. This one is in the 7th percentile – i.e., 7% of its contemporaries scored the same or lower than it.