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Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease

Overview of attention for article published in Orphanet Journal of Rare Diseases, September 2014
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  • Above-average Attention Score compared to outputs of the same age (58th percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

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4 tweeters
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1 Facebook page

Citations

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11 Dimensions

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30 Mendeley
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Title
Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease
Published in
Orphanet Journal of Rare Diseases, September 2014
DOI 10.1186/s13023-014-0143-3
Pubmed ID
Authors

Annalisa Sechi, Andrea Dardis, Stefania Zampieri, Claudio Rabacchi, Paolo Zanoni, Sebastiano Calandra, Giovanna De Maglio, Stefano Pizzolitto, Valerio Maruotti, Antonio Di Muzio, Frances Platt, Bruno Bembi

Abstract

BackgroundTangier disease (TD) is a rare autosomal recessive disorder, resulting from mutations in the ATP binding cassette transporter (ABCA1) gene. The deficiency of ABCA1 protein impairs high density lipoprotein (HDL) synthesis and cholesterol esters trafficking.Case ReportA 58 year-old female, presenting with complex clinical signs (splenomegaly, dysarthria, dysphagia, ataxia, tongue enlargement, prurigo nodularis, legs lymphedema, pancytopenia and bone marrow foam cells), was misdiagnosed as Niemann-Pick C (NPC) and treated with miglustat (300 mg/day), normalizing neurological symptoms and improving skin lesions and legs lymphedema. Subsequently filipin-staining and molecular analysis for NPC genes were negative. Lipid profiling showed severe deficiency of HDL, 2 mg/dl (n.v. 45-65) and apoAI, 5.19 mg/dl (n.v. 110-170), suggesting TD as a probable diagnosis. Molecular analysis of ABCA1 gene showed the presence of a novel homozygous deletion (c.4464-486_4698¿+¿382 Del). Miglustat treatment was then interrupted with worsening of some neurological signs (memory defects, slowing of thought processes) and skin lesions. Treatment was restarted after 7 months with neurological normalization and improvement of skin involvement.ConclusionsThese results suggest miglustat as a possible therapeutic approach in this untreatable disease. The mechanisms by which miglustat ameliorates at least some clinical manifestations of TD needs to be further investigated.

Twitter Demographics

The data shown below were collected from the profiles of 4 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 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 30 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 17%
Student > Ph. D. Student 5 17%
Student > Bachelor 4 13%
Student > Master 4 13%
Student > Postgraduate 2 7%
Other 3 10%
Unknown 7 23%
Readers by discipline Count As %
Agricultural and Biological Sciences 6 20%
Biochemistry, Genetics and Molecular Biology 4 13%
Medicine and Dentistry 4 13%
Pharmacology, Toxicology and Pharmaceutical Science 2 7%
Computer Science 1 3%
Other 3 10%
Unknown 10 33%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 29 July 2015.
All research outputs
#2,414,141
of 5,422,321 outputs
Outputs from Orphanet Journal of Rare Diseases
#466
of 916 outputs
Outputs of similar age
#57,287
of 141,712 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#23
of 39 outputs
Altmetric has tracked 5,422,321 research outputs across all sources so far. This one has received more attention than most of these and is in the 54th percentile.
So far Altmetric has tracked 916 research outputs from this source. They receive a mean Attention Score of 4.3. This one is in the 44th percentile – i.e., 44% 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 141,712 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 58% of its contemporaries.
We're also able to compare this research output to 39 others from the same source and published within six weeks on either side of this one. This one is in the 41st percentile – i.e., 41% of its contemporaries scored the same or lower than it.