↓ Skip to main content

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

Overview of attention for article published in Acta Neuropathologica Communications, June 2017
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 (85th percentile)
  • Good Attention Score compared to outputs of the same age and source (73rd percentile)

Mentioned by

news
1 news outlet
twitter
3 tweeters
wikipedia
1 Wikipedia page

Citations

dimensions_citation
33 Dimensions

Readers on

mendeley
72 Mendeley
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
Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene
Published in
Acta Neuropathologica Communications, June 2017
DOI 10.1186/s40478-017-0441-9
Pubmed ID
Authors

Håkan Thonberg, Huei-Hsin Chiang, Lena Lilius, Charlotte Forsell, Anna-Karin Lindström, Charlotte Johansson, Jenny Björkström, Steinunn Thordardottir, Kristel Sleegers, Christine Van Broeckhoven, Annica Rönnbäck, Caroline Graff

Abstract

Alzheimer disease (AD) is a progressive neurodegenerative disorder and the most common form of dementia. The majority of AD cases are sporadic, while up to 5% are families with an early onset AD (EOAD). Mutations in one of the three genes: amyloid beta precursor protein (APP), presenilin 1 (PSEN1) or presenilin 2 (PSEN2) can be disease causing. However, most EOAD families do not carry mutations in any of these three genes, and candidate genes, such as the sortilin-related receptor 1 (SORL1), have been suggested to be potentially causative. To identify AD causative variants, we performed whole-exome sequencing on five individuals from a family with EOAD and a missense variant, p.Arg1303Cys (c.3907C > T) was identified in SORL1 which segregated with disease and was further characterized with immunohistochemistry on two post mortem autopsy cases from the same family. In a targeted re-sequencing effort on independent index patients from 35 EOAD-families, a second SORL1 variant, c.3050-2A > G, was found which segregated with the disease in 3 affected and was absent in one unaffected family member. The c.3050-2A > G variant is located two nucleotides upstream of exon 22 and was shown to cause exon 22 skipping, resulting in a deletion of amino acids Gly1017- Glu1074 of SORL1. Furthermore, a third SORL1 variant, c.5195G > C, recently identified in a Swedish case control cohort included in the European Early-Onset Dementia (EU EOD) consortium study, was detected in two affected siblings in a third family with familial EOAD. The finding of three SORL1-variants that segregate with disease in three separate families with EOAD supports the involvement of SORL1 in AD pathology. The cause of these rare monogenic forms of EOAD has proven difficult to find and the use of exome and genome sequencing may be a successful route to target them.

Twitter Demographics

The data shown below were collected from the profiles of 3 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 72 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 72 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 17 24%
Researcher 10 14%
Student > Bachelor 10 14%
Student > Doctoral Student 7 10%
Student > Master 6 8%
Other 6 8%
Unknown 16 22%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 19 26%
Neuroscience 15 21%
Agricultural and Biological Sciences 8 11%
Medicine and Dentistry 6 8%
Psychology 3 4%
Other 5 7%
Unknown 16 22%

Attention Score in Context

This research output has an Altmetric Attention Score of 14. 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 07 June 2018.
All research outputs
#2,232,586
of 22,979,862 outputs
Outputs from Acta Neuropathologica Communications
#363
of 1,391 outputs
Outputs of similar age
#44,914
of 317,132 outputs
Outputs of similar age from Acta Neuropathologica Communications
#6
of 23 outputs
Altmetric has tracked 22,979,862 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 90th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,391 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 12.8. This one has gotten more attention than average, scoring higher than 73% 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 317,132 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 85% of its contemporaries.
We're also able to compare this research output to 23 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 73% of its contemporaries.