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Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients
Ebba Lohmann, Rita J Guerreiro, Nihan Erginel-Unaltuna, Nicole Gurunlian, Basar Bilgic, Hakan Gurvit, Hasmet A Hanagasi, Nga Luu et al.. Neurobiology of aging, 2012-04-13
Topic: Genetics and APOE
In order to assess the frequency of mutations in the known Alzheimer's disease causative genes in Turkish dementia patients we screened amyloid precursor protein (APP), PSEN1 and PSEN2 for mutations in a cohort of 98 Turkish dementia families. Six families were found to carry PSEN1 mutations (p.H163R, p.P264L, and p.H214Y) or variants suggested to cause the disease (p.L134R, p.L262V, and p.A396T). In 4 other families, previously reported PSEN2 variants were identified (p.R62H, p.R71W, p.M174V (n = 2), and p.S130L). The phenotype of the carriers varied from rapid progressing Alzheimer's disease to frontotemporal dementia, with spasticity and seizures also observed. Here we report a frequency of 11.2% of mutations and variants in the known Alzheimer disease genes in the dementia cohort studied and 24% in the early onset subgroup of patients, suggesting that mutations in these genes are not uncommon in Turkey and are associated with various phenotypes. We thus believe that genetic analysis should become a standardized diagnostic implement, not only for the identification of the genetic disease, but also for appropriate genetic counseling.
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APA 7th
Lohmann, E., Guerreiro, R. J., Erginel-Unaltuna, N., Gurunlian, N., Bilgic, B., Gurvit, H., et al. (2012). Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. Neurobiology of aging. https://doi.org/10.1016/j.neurobiolaging.2012.02.020
Vancouver
Lohmann E, Guerreiro RJ, Erginel-Unaltuna N, Gurunlian N, Bilgic B, Gurvit H, et al. Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. Neurobiology of aging. 2012. doi:10.1016/j.neurobiolaging.2012.02.020. PMID: 22503161.
BibTeX
@article{lohmann2012-22503161,
author = {Lohmann, Ebba and Guerreiro, Rita J and Erginel-Unaltuna, Nihan and Gurunlian, Nicole and Bilgic, Basar and Gurvit, Hakan and Hanagasi, Hasmet A and Luu, Nga and others},
title = {{Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients}},
journal = {Neurobiology of aging},
year = {2012},
doi = {10.1016/j.neurobiolaging.2012.02.020},
pmid = {22503161},
url = {https://doi.org/10.1016/j.neurobiolaging.2012.02.020}
}
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Key findings
- Here we report a frequency of 11.2% of mutations and variants in the known Alzheimer disease genes in the dementia cohort studied and 24% in the early onset subgroup of patients, suggesting that mutations in these genes are not uncommon in Turkey and are associated with various phenotypes.
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Study details
- Study designcohort study
- Effect size11.2%
- Evidence strengthModerate
How this study scored 57/100
Published in a peer-reviewed journal, and it is a cohort study following people over time. Scored zero for sample size, studied in people and randomized / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record, multicenter collaboration and free to read, so those were left out: it earned 32 of the 56 points we could judge it on, which is 57 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neurobiology of aging) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 7 / 12 | A cohort study following people over time |
| Strength of evidence | 3 / 5 | Rated “moderate” 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multicenter collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 22503161) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 32 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 32 of the 56 points we could judge it on is 57 out of 100. |
| Total | 57 / 100 | — |
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