↓ Skip to main content

Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation

Overview of attention for article published in Neurobiology of Aging, March 2016
Altmetric Badge

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 (84th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (58th percentile)

Mentioned by

news
1 news outlet
twitter
3 X users
facebook
1 Facebook page

Citations

dimensions_citation
105 Dimensions

Readers on

mendeley
85 Mendeley
citeulike
1 CiteULike
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation
Published in
Neurobiology of Aging, March 2016
DOI 10.1016/j.neurobiolaging.2016.02.019
Pubmed ID
Authors

Maria R. Almeida, Maria C. Macário, Lina Ramos, Inês Baldeiras, Maria H. Ribeiro, Isabel Santana

Abstract

We and others have reported heterozygous progranulin mutations as an important cause of frontotemporal lobar degeneration (FTLD). It has been identified a complete progranulin deficiency because of a homozygous mutation in a sibling pair with neuronal ceroid lipofuscinosis (NCL). Here, we describe the first case of NCL caused by a homozygous progranulin mutation segregating in a family with neuropathological confirmed FTLD. In this FTLD-NCL family, we detail the clinical phenotype, neuropsychological evaluation and imaging data of our proband harboring a homozygous mutation, c.900_901dupGT, with serum progranulin level (<6 ng/mL). Symptoms included rapidly progressive visual deficit, slightly dysarthria, and cerebellar ataxia. The electroretinogram confirmed a severe attenuation of rod and cone responses compatible with retinal dystrophy diagnosis and magnetic resonance imaging showed severe global cerebellar atrophy. In contrast, heterozygous relatives presented behavioral variant of frontotemporal dementia (FTD) and some also developed extrapyramidal features compatible with corticobasal syndrome. Our findings suggest the importance of assessing serum progranulin levels in suspected recessive adult-onset NCL cases. Overall, a more holistic neurologic intervention is needed to guarantee a proper genetic counseling in cases like the present family where two distinct phenotypes are generated according to the individuals' mutation state.

X Demographics

X Demographics

The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 85 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 85 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 14 16%
Student > Doctoral Student 10 12%
Student > Ph. D. Student 8 9%
Other 7 8%
Student > Master 7 8%
Other 13 15%
Unknown 26 31%
Readers by discipline Count As %
Medicine and Dentistry 13 15%
Biochemistry, Genetics and Molecular Biology 9 11%
Neuroscience 9 11%
Agricultural and Biological Sciences 5 6%
Psychology 5 6%
Other 14 16%
Unknown 30 35%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 11. 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 01 July 2016.
All research outputs
#3,138,699
of 25,374,647 outputs
Outputs from Neurobiology of Aging
#950
of 4,418 outputs
Outputs of similar age
#47,385
of 312,895 outputs
Outputs of similar age from Neurobiology of Aging
#30
of 85 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. Compared to these this one has done well and is in the 87th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 4,418 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 10.6. This one has done well, scoring higher than 77% 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 312,895 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 84% of its contemporaries.
We're also able to compare this research output to 85 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 58% of its contemporaries.