| Title |
Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders
|
|---|---|
| Published in |
Clinical Interventions in Aging, July 2015
|
| DOI | 10.2147/cia.s85808 |
| Pubmed ID | |
| Authors |
Yan Cai, Seong Soo A An, SangYun Kim |
| Abstract |
Alzheimer's disease (AD) is the most common form of dementia. Mutations in the genes encoding presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein have been identified as the main genetic causes of familial AD. To date, more than 200 mutations have been described worldwide in PSEN1, which is highly homologous with PSEN2, while mutations in PSEN2 have been rarely reported. We performed a systematic review of studies describing the mutations identified in PSEN2. Most PSEN2 mutations were detected in European and in African populations. Only two were found in Korean populations. Interestingly, PSEN2 mutations appeared not only in AD patients but also in patients with other disorders, including frontotemporal dementia, dementia with Lewy bodies, breast cancer, dilated cardiomyopathy, and Parkinson's disease with dementia. Here, we have summarized the PSEN2 mutations and the potential implications of these mutations in dementia-associated disorders. |
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.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 33% |
| Unknown | 2 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 300 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | <1% |
| Brazil | 1 | <1% |
| Unknown | 298 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 59 | 20% |
| Student > Ph. D. Student | 46 | 15% |
| Student > Master | 40 | 13% |
| Researcher | 17 | 6% |
| Student > Doctoral Student | 13 | 4% |
| Other | 28 | 9% |
| Unknown | 97 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 60 | 20% |
| Neuroscience | 30 | 10% |
| Medicine and Dentistry | 23 | 8% |
| Agricultural and Biological Sciences | 23 | 8% |
| Pharmacology, Toxicology and Pharmaceutical Science | 18 | 6% |
| Other | 41 | 14% |
| Unknown | 105 | 35% |
Attention Score in Context
This research output has an Altmetric Attention Score of 17. 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 26 July 2021.
All research outputs
#2,195,012
of 25,374,917 outputs
Outputs from Clinical Interventions in Aging
#241
of 1,968 outputs
Outputs of similar age
#27,158
of 277,613 outputs
Outputs of similar age from Clinical Interventions in Aging
#5
of 56 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% 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 done well, scoring higher than 87% of its peers.
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We're also able to compare this research output to 56 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 91% of its contemporaries.