| Title |
A case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer’s dementia supported by structure prediction
|
|---|---|
| Published in |
Clinical Interventions in Aging, February 2017
|
| DOI | 10.2147/cia.s128884 |
| Pubmed ID | |
| Authors |
Kyung Won Park, Seong Soo An, Eva Bagyinszky, SangYun Kim |
| Abstract |
A 49-year-old Korean male patient with dementia was diagnosed with probable early-onset Alzheimer's disease (AD). He presented with memory problems, personality changes, and disorientation. His family history of dementia was probably negative, since no family member with dementia was found or mentioned. Mild cortical atrophy was observed upon magnetic resonance imaging analyses of his brain, and the single-photon emission computed tomography analysis revealed hypoperfusion in the frontal, temporal, and limbic lobes. The patient was tested for mutations in APP, PSEN1, PSEN2, PGRN, MAPT, and PRNP genes. Genetic analysis revealed R62C mutation in PSEN2 gene. PSEN2 R62C mutation was previously reported in European populations, including Dutch and Belgian families with AD. Herein, we present the first case report of PSEN2 R62C mutation in Asia. PolyPhen-2 and SIFT software analyses predicted this mutation as "possibly damaging", suggesting its potential involvement with AD. In silico protein structural prediction analyses of PSEN2 R62 and C62 revealed two divergent structures, suggesting that large perturbations of R62C mutation might cause dysfunctions of PSEN2, which may alter the normal amyloid production. |
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 % |
|---|---|---|
| Student > Ph. D. Student | 6 | 14% |
| Researcher | 6 | 14% |
| Other | 4 | 9% |
| Student > Doctoral Student | 3 | 7% |
| Student > Bachelor | 3 | 7% |
| Other | 7 | 16% |
| Unknown | 15 | 34% |
| Readers by discipline | Count | As % |
|---|---|---|
| Neuroscience | 7 | 16% |
| Medicine and Dentistry | 6 | 14% |
| Nursing and Health Professions | 3 | 7% |
| Psychology | 3 | 7% |
| Biochemistry, Genetics and Molecular Biology | 2 | 5% |
| Other | 5 | 11% |
| Unknown | 18 | 41% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. 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 03 March 2017.
All research outputs
#4,837,286
of 25,382,440 outputs
Outputs from Clinical Interventions in Aging
#493
of 1,968 outputs
Outputs of similar age
#90,476
of 424,972 outputs
Outputs of similar age from Clinical Interventions in Aging
#19
of 42 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. Compared to these this one has done well and is in the 79th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,968 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 11.1. This one has gotten more attention than average, scoring higher than 72% of its peers.
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We're also able to compare this research output to 42 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 52% of its contemporaries.