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54/100

✓ Peer-reviewed alzhub usefulness score 54 out of 100. Risk genes beyond APOE

Topic: Amyloid, tau and blood-test diagnosis

Objective To identify a novel biochemical marker that precedes clinical symptoms in Alzheimer disease (AD). Methods Using quantitative polymerase chain reaction techniques, we measured circulating cell-free mitochondrial DNA (mtDNA) in cerebrospinal fluid (CSF) from study participants, selected from a cohort of 282 subjects, who were classified according to their concentrations of amyloid β1-42, total tau, and phosphorylated tau and by the presence or absence of dementia, into asymptomatic subjects at risk of AD, symptomatic patients diagnosed with sporadic AD, presymptomatic subjects carrying pathogenic PSEN1 mutations, and patients diagnosed with frontotemporal lobar degeneration (FTLD). We performed equivalent studies in a separate validation cohort of sporadic AD and FTLD patients.

Cite this study APA, Vancouver, BibTeX · download .bib or .ris

APA 7th

Podlesniy, P., Figueiro-Silva, J., Llado, A., Antonell, A., Sanchez-Valle, R., Alcolea, D., et al. (2013). Low cerebrospinal fluid concentration of mitochondrial DNA in preclinical Alzheimer disease. Annals of neurology. https://doi.org/10.1002/ana.23955

Vancouver

Podlesniy P, Figueiro-Silva J, Llado A, Antonell A, Sanchez-Valle R, Alcolea D, et al. Low cerebrospinal fluid concentration of mitochondrial DNA in preclinical Alzheimer disease. Annals of neurology. 2013. doi:10.1002/ana.23955. PMID: 23794434.

BibTeX

@article{podlesniy2013-23794434,
  author  = {Podlesniy, P. and Figueiro-Silva, J. and Llado, A. and Antonell, A. and Sanchez-Valle, R. and Alcolea, D. and Lleo, A. and Molinuevo, J. L. and others},
  title   = {{Low cerebrospinal fluid concentration of mitochondrial DNA in preclinical Alzheimer disease}},
  journal = {Annals of neurology},
  year    = {2013},
  doi     = {10.1002/ana.23955},
  pmid    = {23794434},
  url     = {https://doi.org/10.1002/ana.23955}
}

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Key findings

Methods Using quantitative polymerase chain reaction techniques, we measured circulating cell-free mitochondrial DNA (mtDNA) in cerebrospinal fluid (CSF) from study participants, selected from a cohort of 282 subjects, who were classified according to their concentrations of amyloid β1-42, total tau, and phosphorylated tau and by the presence or absence of dementia, into asymptomatic subjects at risk of AD, symptomatic patients diagnosed with sporadic AD, presymptomatic subjects carrying pathogenic PSEN1 mutations, and patients diagnosed with frontotemporal lobar degeneration (FTLD).
We performed equivalent studies in a separate validation cohort of sporadic AD and FTLD patients.
In addition, we measured mtDNA copy number in cultured cortical neurons from mutant amyloid precursor protein/presenilin1 (APP/PS1) transgenic mice.
Results Asymptomatic patients at risk of AD and symptomatic AD patients, but not FTLD patients, exhibit a significant decrease in circulating cell-free mtDNA in the CSF.

Why it matters

This study measured cell-free mitochondrial DNA in cerebrospinal fluid and found low concentrations in people at risk of Alzheimer's disease before symptoms appeared, including presymptomatic carriers of PSEN1 mutations. It identifies a possible early biochemical marker, not a treatment, cure or prevention.

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Study details

Participants282
Evidence strengthModerate

How this study scored 54/100

Published in a leading specialty journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.

Component	Points	Why
Journal tier	9 / 10	Tier 2 — leading specialty journal (Annals of neurology)
Journal's citation record	3 / 4	Annals of Neurology: journal h-index 437 (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	1 / 5	2013 — within 20 year(s) of the newest study here
Sample size	2 / 4	282 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	5 / 7	Cited 219 times (OpenAlex, 2026-10-10)
Citations per year	3 / 5	14.6 citations a year over 15 year(s) since 2013
Impact for its field and year	4 / 6	Cited 11.5× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	2 / 6	Cited by 3 other studies in this library
Still being cited	2 / 4	Cited 43 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	2 / 4	Last-listed author Ramón Trullás: h-index 37 (OpenAlex, whole career)
Institution's track record	1 / 3	Consejo Superior de Investigaciones Científicas: institution h-index 1,048 (OpenAlex)
Multi-centre collaboration	2 / 3	OpenAlex lists 7 institution(s) in 1 country
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 23794434)
Free to read	0 / 2	Behind a paywall — scores zero
Total	54 / 100	—

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