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Locus-specific mutation databases for neurodegenerative brain diseases
Cruts M, Theuns J, Van Broeckhoven C.. Human mutation, 2012-07-02
Topic: Brain proteins, microglia and lab models
The Alzheimer disease and frontotemporal dementia (AD&FTLD) and Parkinson disease (PD) Mutation Databases make available curated information of sequence variations in genes causing Mendelian forms of the most common neurodegenerative brain disease AD, frontotemporal lobar degeneration (FTLD), and PD. They are established resources for clinical geneticists, neurologists, and researchers in need of comprehensive, referenced genetic, epidemiologic, clinical, neuropathological, and/or cell biological information of specific gene mutations in these diseases. In addition, the aggregate analysis of all information available in the databases provides unique opportunities to extract mutation characteristics and genotype-phenotype correlations, which would be otherwise unnoticed and unexplored. Such analyses revealed that 61.4% of mutations are private to one single family, while only 5.7% of mutations occur in 10 or more families. The five mutations with most frequent independent observations occur in 21% of AD, 43% of FTLD, and 48% of PD families recorded in the Mutation Databases, respectively. Although these figures are inevitably biased by a publishing policy favoring novel mutations, they probably also reflect the occurrence of multiple rare and few relatively common mutations in the inherited forms of these diseases. Finally, with the exception of the PD genes PARK2 and PINK1, all other genes are associated with more than one clinical diagnosis or characteristics thereof.
Key findings
- Such analyses revealed that 61.4% of mutations are private to one single family, while only 5.7% of mutations occur in 10 or more families.
- Finally, with the exception of the PD genes PARK2 and PINK1, all other genes are associated with more than one clinical diagnosis or characteristics thereof.
Why it matters
This 2012 paper describes curated databases of gene mutations behind the inherited (Mendelian) forms of Alzheimer's disease, frontotemporal lobar degeneration and Parkinson's disease, built as a reference for clinical geneticists, neurologists and researchers. Pooling the entries, the authors found that 61.4% of mutations had been seen in only one family and just 5.7% in 10 or more, and that every gene except PARK2 and PINK1 was linked to more than one clinical diagnosis. They note these figures are biased by journals favouring novel mutations, and the paper concerns rare inherited forms, not individual risk or treatment.
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Study details
- Effect size61.4%; 5.7%
- Evidence strengthLow
How this study scored 53/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Human mutation) |
| Journal's citation record | 2 / 4 | Human Mutation: journal h-index 219 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2012 — within 20 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 6 / 7 | Cited 462 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 28.9 citations a year over 16 year(s) since 2012 |
| Impact for its field and year | 5 / 6 | Cited 25.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 19 other studies in this library |
| Still being cited | 2 / 4 | Cited 27 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Christine Van Broeckhoven: h-index 140 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Antwerp: institution h-index 834 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 22581678) |
| Free to read | 2 / 2 | Free to read |
| Total | 53 / 100 | — |
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Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
APA 7th
Cruts, M., Theuns, J., & Van Broeckhoven, C. (2012). Locus-specific mutation databases for neurodegenerative brain diseases. Human mutation. https://doi.org/10.1002/humu.22117
Vancouver
Cruts M, Theuns J, Van Broeckhoven C. Locus-specific mutation databases for neurodegenerative brain diseases. Human mutation. 2012. doi:10.1002/humu.22117. PMID: 22581678.
BibTeX
@article{cruts2012-22581678,
author = {Cruts, M. and Theuns, J. and Van Broeckhoven, C.},
title = {{Locus-specific mutation databases for neurodegenerative brain diseases}},
journal = {Human mutation},
year = {2012},
doi = {10.1002/humu.22117},
pmid = {22581678},
url = {https://doi.org/10.1002/humu.22117}
}
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