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A novel V272D presenilin mutation associated with logopenia, disorientation, and apraxia in an autosomal-dominant Alzheimer's disease family
David Mengel, Lei Liu, Raina Yamamoto, Stefan Zülow, Cornelius Deuschl, Dirk M Hermann, Inga Zerr, Dennis J Selkoe et al.. Neurobiology of aging, 2019-08-07
Topic: Genetics and APOE
In the present study, a novel mutation in the presenilin 1 gene was discovered in an Iraq-native patient with early-onset Alzheimer's disease, who presented with speech impairment and memory decline at age 46 years. Magnetic resonance imaging showed a frontotemporal atrophy. Sanger sequencing identified a heterozygous T to A transversion at position 815 (c.815T>A) in the presenilin 1 gene (PSEN1), resulting in a novel missense mutation at codon 272 from valine to aspartate (V272D). We tested this PSEN1 mutation in vitro and found V272D resulted in an altered Aβ42/40 ratio.
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APA 7th
Mengel, D., Liu, L., Yamamoto, R., Zülow, S., Deuschl, C., Hermann, D. M., et al. (2020). A novel V272D presenilin mutation associated with logopenia, disorientation, and apraxia in an autosomal-dominant Alzheimer's disease family. Neurobiology of aging. https://doi.org/10.1016/j.neurobiolaging.2019.07.002
Vancouver
Mengel D, Liu L, Yamamoto R, Zülow S, Deuschl C, Hermann DM, et al. A novel V272D presenilin mutation associated with logopenia, disorientation, and apraxia in an autosomal-dominant Alzheimer's disease family. Neurobiology of aging. 2020. doi:10.1016/j.neurobiolaging.2019.07.002. PMID: 31500908.
BibTeX
@article{mengel2020-31500908,
author = {Mengel, David and Liu, Lei and Yamamoto, Raina and Zülow, Stefan and Deuschl, Cornelius and Hermann, Dirk M and Zerr, Inga and Selkoe, Dennis J and others},
title = {{A novel V272D presenilin mutation associated with logopenia, disorientation, and apraxia in an autosomal-dominant Alzheimer's disease family}},
journal = {Neurobiology of aging},
year = {2020},
doi = {10.1016/j.neurobiolaging.2019.07.002},
pmid = {31500908},
url = {https://doi.org/10.1016/j.neurobiolaging.2019.07.002}
}
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Key findings
- In the present study, a novel mutation in the presenilin 1 gene was discovered in an Iraq-native patient with early-onset Alzheimer's disease, who presented with speech impairment and memory decline at age 46 years.
- Magnetic resonance imaging showed a frontotemporal atrophy.
- Sanger sequencing identified a heterozygous T to A transversion at position 815 (c.815T>A) in the presenilin 1 gene (PSEN1), resulting in a novel missense mutation at codon 272 from valine to aspartate (V272D).
- We tested this PSEN1 mutation in vitro and found V272D resulted in an altered Aβ42/40 ratio.
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Study details
- Evidence strengthLow
How this study scored 39/100
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 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, multi-centre collaboration and free to read, so those were left out: it earned 22 of the 56 points we could judge it on, which is 39 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 | 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 | 2 / 5 | 2020 — within 10 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 | 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 | — / 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 |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 31500908) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 22 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 22 of the 56 points we could judge it on is 39 out of 100. |
| Total | 39 / 100 | — |
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