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Familial non-specific dementia maps to chromosome 3
Brown J, Ashworth A, Gydesen S, Sorensen A, Rossor M, Hardy J, Collinge J.. Human molecular genetics, 1995-09-01
Topic: Risk, prevention and care in population studies
A significant minority of degenerative dementias lack distinctive inclusion bodies, plagues or tangles on pathological examination. Half of these cases have a positive family history of dementia. We have studied the largest published family with such a dementia and mapped the disease locus to a 12 cM region of chromosome 3 spanning the centromere. Haplotype analysis demonstrates a common region shared between all affected individuals between the markers D3S1284 and D3S1603. Like a number of other late onset neurodegenerative diseases, the disease presents at an earlier age when paternally inherited.
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APA 7th
Brown, J., Ashworth, A., Gydesen, S., Sorensen, A., Rossor, M., Hardy, J., et al. (1995). Familial non-specific dementia maps to chromosome 3. Human molecular genetics. https://doi.org/10.1093/hmg/4.9.1625
Vancouver
Brown J, Ashworth A, Gydesen S, Sorensen A, Rossor M, Hardy J, et al. Familial non-specific dementia maps to chromosome 3. Human molecular genetics. 1995. doi:10.1093/hmg/4.9.1625. PMID: 8541850.
BibTeX
@article{brown1995-8541850,
author = {Brown, J. and Ashworth, A. and Gydesen, S. and Sorensen, A. and Rossor, M. and Hardy, J. and Collinge, J.},
title = {{Familial non-specific dementia maps to chromosome 3}},
journal = {Human molecular genetics},
year = {1995},
doi = {10.1093/hmg/4.9.1625},
pmid = {8541850},
url = {https://doi.org/10.1093/hmg/4.9.1625}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record names 7 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
Key findings
- A significant minority of degenerative dementias lack distinctive inclusion bodies, plagues or tangles on pathological examination.
Why it matters
In the largest published family with a non-specific degenerative dementia lacking plaques or tangles, the disease was mapped to a region of chromosome 3. This is a genetic finding in one family and does not yet offer a treatment, cure, or prevention.
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Study details
- Evidence strengthLow
How this study scored 40/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it. We have no data on senior author's track record, so that was left out: it earned 38 of the 96 points we could judge it on, which is 40 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Human molecular genetics) |
| Journal's citation record | 3 / 4 | Human Molecular Genetics: journal h-index 356 (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 | 1995 — older than 20 years, still counted |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| 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 | 5 / 7 | Cited 163 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 4.9 citations a year over 33 year(s) since 1995 |
| Impact for its field and year | 3 / 6 | Cited 7.9× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 7 other studies in this library |
| Still being cited | 0 / 4 | Cited 0 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | — / 4 | OpenAlex's profile for last-listed author John Collinge holds only 5 work(s), too few to judge a track record — left out of this score |
| Institution's track record | 1 / 3 | University of Copenhagen: institution h-index 1,378 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 8541850) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 38 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 38 of the 96 points we could judge it on is 40 out of 100. |
| Total | 40 / 100 | — |
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