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The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2012
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (91st percentile)
  • High Attention Score compared to outputs of the same age and source (96th percentile)

Mentioned by

blogs
1 blog
twitter
6 tweeters
facebook
2 Facebook pages
wikipedia
3 Wikipedia pages

Citations

dimensions_citation
101 Dimensions

Readers on

mendeley
115 Mendeley
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Title
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
Published in
Orphanet Journal of Rare Diseases, January 2012
DOI 10.1186/1750-1172-7-83
Pubmed ID
Authors

Annet M Bosch, Kevin Stroek, Nico G Abeling, Hans R Waterham, Lodewijk IJlst, Ronald JA Wanders

Abstract

The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity. Recently it was demonstrated that in some patients the disease is caused by mutations in the SLC52A3 gene which encodes the intestinal (hRFT2) riboflavin transporter. In these patients riboflavin deficiency is the cause of the BVVL/FL syndrome and supplementation of riboflavin proved a life saving treatment. Mutations in the SLC52A2 gene and the SLC52A1 (GPR172B) gene, coding for human riboflavin transporters hRFT3 and hRFT1 have been associated with the BVVL syndrome as well. We performed a review of the literature, with emphasis on the natural history and the effects of treatment in these patients. A total of 35 publications were traced reporting on the clinical presentation of 74 patients who presented before age 18. The most prevalent symptoms were bulbar palsy, hearing loss, facial weakness and respiratory compromise. Death was reported in 28 of the 61 untreated patients, with a very low survival in patients presenting before age 4. All 13 patients who were treated with riboflavin survived, with a strong clinical improvement after days to months of treatment in eight patients. Three patients demonstrated a stable clinical course and treatment was stopped early in two patients. Abnormalities in plasma flavin levels and/or plasma acylcarnitine profiles were observed in some but not in all patients, and also patients with normal plasma flavin levels and acylcarnitine profiles demonstrated a striking clinical improvement on riboflavin supplementation. It is now clear that proper diagnosis requires mutation analysis of all three transporter genes and treatment should be started immediately without first awaiting results of molecular analysis. Clinical improvement may be rapid or gradual over a period of more than 12 months.

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

Geographical breakdown

Country Count As %
Japan 1 <1%
United Kingdom 1 <1%
Brazil 1 <1%
Unknown 112 97%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 17 15%
Student > Master 14 12%
Student > Postgraduate 13 11%
Other 10 9%
Researcher 10 9%
Other 31 27%
Unknown 20 17%
Readers by discipline Count As %
Medicine and Dentistry 46 40%
Biochemistry, Genetics and Molecular Biology 14 12%
Neuroscience 10 9%
Agricultural and Biological Sciences 8 7%
Nursing and Health Professions 5 4%
Other 6 5%
Unknown 26 23%

Attention Score in Context

This research output has an Altmetric Attention Score of 15. 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 26 February 2021.
All research outputs
#1,826,869
of 20,375,306 outputs
Outputs from Orphanet Journal of Rare Diseases
#201
of 2,248 outputs
Outputs of similar age
#14,076
of 173,922 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#3
of 58 outputs
Altmetric has tracked 20,375,306 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,248 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one has done particularly well, scoring higher than 90% 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 173,922 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 91% of its contemporaries.
We're also able to compare this research output to 58 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 96% of its contemporaries.