| Title |
The genetics and neuropathology of Alzheimer’s disease
|
|---|---|
| Published in |
Acta Neuropathologica, May 2012
|
| DOI | 10.1007/s00401-012-0996-2 |
| Pubmed ID | |
| Authors |
Gerard D. Schellenberg, Thomas J. Montine |
| Abstract |
Here we review the genetic causes and risks for Alzheimer's disease (AD). Early work identified mutations in three genes that cause AD: APP, PSEN1 and PSEN2. Although mutations in these genes are rare causes of AD, their discovery had a major impact on our understanding of molecular mechanisms of AD. Early work also revealed the ε4 allele of the APOE as a strong risk factor for AD. Subsequently, SORL1 also was identified as an AD risk gene. More recently, advances in our knowledge of the human genome, made possible by technological advances and methods to analyze genomic data, permit systematic identification of genes that contribute to AD risk. This work, so far accomplished through single nucleotide polymorphism arrays, has revealed nine new genes implicated in AD risk (ABCA7, BIN1, CD33, CD2AP, CLU, CR1, EPHA1, MS4A4E/MS4A6A, and PICALM). We review the relationship between these mutations and genetic variants and the neuropathologic features of AD and related disorders. Together, these discoveries point toward a new era in neurodegenerative disease research that impacts not only AD but also related illnesses that produce cognitive and behavioral deficits. |
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 % |
|---|---|---|
| Australia | 1 | 33% |
| Unknown | 2 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Scientists | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 293 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 4 | 1% |
| United Kingdom | 2 | <1% |
| Australia | 1 | <1% |
| Brazil | 1 | <1% |
| Germany | 1 | <1% |
| Czechia | 1 | <1% |
| Japan | 1 | <1% |
| Canada | 1 | <1% |
| Unknown | 281 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 72 | 25% |
| Researcher | 51 | 17% |
| Student > Master | 43 | 15% |
| Student > Bachelor | 36 | 12% |
| Student > Postgraduate | 20 | 7% |
| Other | 45 | 15% |
| Unknown | 26 | 9% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 81 | 28% |
| Medicine and Dentistry | 56 | 19% |
| Neuroscience | 47 | 16% |
| Biochemistry, Genetics and Molecular Biology | 31 | 11% |
| Psychology | 11 | 4% |
| Other | 31 | 11% |
| Unknown | 36 | 12% |
Attention Score in Context
This research output has an Altmetric Attention Score of 5. 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 24 January 2020.
All research outputs
#6,005,164
of 22,665,794 outputs
Outputs from Acta Neuropathologica
#1,234
of 2,358 outputs
Outputs of similar age
#41,914
of 164,339 outputs
Outputs of similar age from Acta Neuropathologica
#9
of 18 outputs
Altmetric has tracked 22,665,794 research outputs across all sources so far. This one has received more attention than most of these and is in the 73rd percentile.
So far Altmetric has tracked 2,358 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 14.3. This one is in the 47th percentile – i.e., 47% of its peers scored the same or lower than it.
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 164,339 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 74% of its contemporaries.
We're also able to compare this research output to 18 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 50% of its contemporaries.