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Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency
Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J, Dang Do A, Bianconi S et al.. Molecular genetics and metabolism reports, 2023-08-21
Topic: Brain proteins, microglia and lab models
Background Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay. The biomarkers Aβ40, Aβ42 and total tau are abnormal in Alzheimer disease (AD), a common neurodegenerative disorder pathologically characterized by Aβ peptide containing amyloid plaques and tau neurofibrillary tangles.
Key findings
- The disorder is marked by developmental delay, especially speech delay.
- The biomarkers Aβ40, Aβ42 and total tau are abnormal in Alzheimer disease (AD), a common neurodegenerative disorder pathologically characterized by Aβ peptide containing amyloid plaques and tau neurofibrillary tangles.
- Although CTD results in neuronal energy deficiency, the pathological processes underlying the CTD phenotype are not fully characterized.
- Methods Cerebral spinal fluid (CSF) was collected as an optional part of a natural history study of CTD.
Why it matters
This study found elevated Aβ40, Aβ42 and total tau in cerebrospinal fluid in individuals with creatine transporter deficiency, a rare disorder of creatine transport. It describes biomarker abnormalities in a different condition and does not test any treatment, cure or prevention of Alzheimer's disease.
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Study details
- Participants12
- Evidence strengthModerate
How this study scored 42/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Molecular genetics and metabolism reports) |
| Journal's citation record | 0 / 4 | Molecular Genetics and Metabolism Reports: journal h-index 39 (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 | 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 | 3 / 5 | 2023 — within 6 year(s) of the newest study here |
| Sample size | 1 / 4 | 12 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 1 / 7 | Cited 2 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.4 citations a year over 5 year(s) since 2023 |
| Impact for its field and year | 1 / 6 | Cited 0.3× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 1 / 6 | Cited by 1 other studies in this library |
| Still being cited | 0 / 4 | Cited 2 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Forbes D. Porter: h-index 63 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | National Institutes of Health: institution h-index 2,723 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 9 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 37662495) |
| Free to read | 2 / 2 | Free to read |
| Total | 42 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1016/j.ymgmr.2023.101001
- PubMed: 37662495
- Original source →
- Free full text: Molecular Genetics and Metabolism Reports →
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. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Rahhal, S., Farmer, C., Thurm, A., Wassif, C. A., Cawley, N. X., Perreault, J., et al. (2023). Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency. Molecular genetics and metabolism reports. https://doi.org/10.1016/j.ymgmr.2023.101001
Vancouver
Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J, et al. Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency. Molecular genetics and metabolism reports. 2023. doi:10.1016/j.ymgmr.2023.101001. PMID: 37662495.
BibTeX
@article{rahhal2023-37662495,
author = {Rahhal, S. and Farmer, C. and Thurm, A. and Wassif, C. A. and Cawley, N. X. and Perreault, J. and Dang Do, A. and Bianconi, S. and others},
title = {{Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency}},
journal = {Molecular genetics and metabolism reports},
year = {2023},
doi = {10.1016/j.ymgmr.2023.101001},
pmid = {37662495},
url = {https://doi.org/10.1016/j.ymgmr.2023.101001}
}
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