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Brown-Vialetto-Van Laere syndrome

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2008
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (73rd percentile)
  • Above-average Attention Score compared to outputs of the same age and source (53rd percentile)

Mentioned by

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1 Facebook page
wikipedia
3 Wikipedia pages

Citations

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77 Dimensions

Readers on

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76 Mendeley
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Title
Brown-Vialetto-Van Laere syndrome
Published in
Orphanet Journal of Rare Diseases, April 2008
DOI 10.1186/1750-1172-3-9
Pubmed ID
Authors

Sivakumar Sathasivam

Abstract

The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is approximately 3:1. The age of onset of the initial symptom varies from infancy to the third decade. The syndrome most frequently presents with sensorineural deafness, which is usually progressive and severe. Lower cranial nerve involvement and lower and upper motor neuron limb signs are common neurological features. Other features include respiratory compromise (the most frequent non-neurological finding), limb weakness, slurring of speech, facial weakness, and neck and shoulder weakness. Optic atrophy, retinitis pigmentosa, macular hyperpigmentation, autonomic dysfunction, epilepsy may occur. The etiopathogenesis of the condition remains elusive. Approximately 50% of cases are familial, of which autosomal recessive is suggested. The remaining cases are sporadic. The diagnosis is usually based on the clinical presentation. Investigations (neurophysiological studies, magnetic resonance imaging of the brain, muscle biopsy, cerebrospinal fluid examination) are done to exclude other causes or to confirm the clinical findings. The differential diagnoses include the Fazio-Londe syndrome, amyotrophic lateral sclerosis, Nathalie syndrome, Boltshauser syndrome and Madras motor neuron disease. Treatment with steroids or intravenous immunoglobulin may result in temporary stabilization of the syndrome. However, the mainstays of management are supportive and symptomatic treatment, in particular assisted ventilation and maintenance of nutrition via gastrostomy. The clinical course of BVVL is variable and includes gradual deterioration (almost half of cases), gradual deterioration with stable periods in between (a third of cases) and deterioration with abrupt periods of worsening (just under a fifth of cases). After the initial presentation, one third of patients survive for ten years or longer.

Mendeley readers

The data shown below were compiled from readership statistics for 76 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 1%
Germany 1 1%
Brazil 1 1%
Unknown 73 96%

Demographic breakdown

Readers by professional status Count As %
Student > Master 13 17%
Student > Postgraduate 10 13%
Student > Bachelor 9 12%
Researcher 8 11%
Student > Doctoral Student 7 9%
Other 19 25%
Unknown 10 13%
Readers by discipline Count As %
Medicine and Dentistry 38 50%
Agricultural and Biological Sciences 7 9%
Neuroscience 5 7%
Biochemistry, Genetics and Molecular Biology 4 5%
Psychology 4 5%
Other 8 11%
Unknown 10 13%

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 09 April 2017.
All research outputs
#2,498,832
of 9,662,012 outputs
Outputs from Orphanet Journal of Rare Diseases
#408
of 1,202 outputs
Outputs of similar age
#32,708
of 125,781 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#23
of 54 outputs
Altmetric has tracked 9,662,012 research outputs across all sources so far. This one has received more attention than most of these and is in the 73rd percentile.
So far Altmetric has tracked 1,202 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.8. This one has gotten more attention than average, scoring higher than 64% 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 125,781 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 73% of its contemporaries.
We're also able to compare this research output to 54 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 53% of its contemporaries.