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Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes

Overview of attention for article published in Orphanet Journal of Rare Diseases, February 2018
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (91st percentile)

Mentioned by

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2 news outlets
twitter
7 tweeters
googleplus
1 Google+ user

Citations

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9 Dimensions

Readers on

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44 Mendeley
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Title
Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes
Published in
Orphanet Journal of Rare Diseases, February 2018
DOI 10.1186/s13023-018-0767-9
Pubmed ID
Authors

Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro, Yann Nadjar

Abstract

5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency is a genetic disorder that can occur at any age and can be easily detected by increased homocysteinemia. In adolescence/adult onset forms, the clinical picture is often complex with association of various neurological features and thrombosis.Here we report the cases of two adult siblings who experienced focal epilepsy at 18 years old as a first disease manifestation, without other symptom during several years. Upon diagnosis, both patients received metabolic treatment comprising B9, B12 and betaine which has stopped the occurrence of seizures, allowing discontinuation of anti-epileptic drugs.Among 24 reviewed adolescent/adult onset patients with MTHFR deficiency in the literature, clinical manifestations included gait disorder (96%, from motor central or peripheral origin), cognitive decline (74%), epileptic syndromes (50%), encephalopathy (30%), psychotic symptoms (17%), and thrombotic events (21%). A total of 41% presented a single neurological manifestation that could stay isolated during at least 3 years, delaying achievement of the diagnosis. Brain MRI showed a mostly periventricular white matter changes in 71% of cases. All patients stabilized or improved following metabolic treatment.Despite being rare, adolescence/adult onset MTHFR deficiency can nevertheless be successfully treated. Therefore, homocysteinemia should be tested in various unexplained neuro-psychiatric syndromes like epilepsy or spastic paraparesis, even if isolated, since waiting for completion of the clinical picture is likely to increase the risk of irreversible neurological damage.

Twitter Demographics

The data shown below were collected from the profiles of 7 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 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 44 100%

Demographic breakdown

Readers by professional status Count As %
Other 7 16%
Student > Ph. D. Student 6 14%
Student > Bachelor 6 14%
Student > Master 5 11%
Student > Doctoral Student 4 9%
Other 4 9%
Unknown 12 27%
Readers by discipline Count As %
Medicine and Dentistry 12 27%
Nursing and Health Professions 4 9%
Biochemistry, Genetics and Molecular Biology 4 9%
Neuroscience 4 9%
Psychology 2 5%
Other 4 9%
Unknown 14 32%

Attention Score in Context

This research output has an Altmetric Attention Score of 24. 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 25 October 2020.
All research outputs
#946,501
of 16,651,463 outputs
Outputs from Orphanet Journal of Rare Diseases
#77
of 1,768 outputs
Outputs of similar age
#31,185
of 372,357 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#1
of 2 outputs
Altmetric has tracked 16,651,463 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 94th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,768 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one has done particularly well, scoring higher than 95% 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 372,357 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 2 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them