Evidence map›Paper›PMID 42454523›Full record

ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2026

Changes in body composition in genetic C9orf72 carriers: The role of the hypothalamus and thalamus.

Rebekah M Ahmed, Nga Yan Tse, Martina Bocchetta, Carol Dobson-Stone, John B Kwok, John R Hodges, Muireann Irish, Jonathan R Rohrer, Olivier Piguet, Glenda Halliday

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Rebekah M AhmedBrain and Mind Centre, The University of Sydney, Sydney, Australia.
Nga Yan TseBrain and Mind Centre, The University of Sydney, Sydney, Australia.
Martina BocchettaDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Carol Dobson-StoneBrain and Mind Centre, The University of Sydney, Sydney, Australia.
John B KwokBrain and Mind Centre, The University of Sydney, Sydney, Australia.
John R HodgesBrain and Mind Centre, The University of Sydney, Sydney, Australia.
Muireann IrishBrain and Mind Centre, The University of Sydney, Sydney, Australia.
Jonathan R RohrerDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Olivier PiguetBrain and Mind Centre, The University of Sydney, Sydney, Australia.
Glenda HallidayBrain and Mind Centre, The University of Sydney, Sydney, Australia.

Funding

National Health and Medical Research Council
6 · The paper itself

Abstract

backgroundPatients with sporadic frontotemporal dementia (FTD) display changes in metabolism and body composition. No studies have examined body composition changes in pre-symptomatic C9orf72 mutation carriers

methodsAsymptomatic C9orf72 expansion carriers between 2017 and 2022 (n = 28 non-carriers, 16 expansion-positive), underwent dual-energy X-ray absorptiometry (measurement of changes in body composition) and brain magnetic resonance imaging (MRI).

resultsChanges in body composition were identified in the C9orf72 expansion carrier group compared to non-carrier group (average 11-12 years prior to onset): lower android-to-gynoid ratio (p = 0.009), and visceral adipose tissue area (p = 0.010). Lower android-to-gynoid ratio and lean mass were associated with lower volumes across the cortex, subcortex, and thalamus.

conclusionsThe current study highlights that genetically at-risk C9orf72 patients exhibit altered body composition. These findings align with the growing recognition that changes in genetic frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS) extend beyond cognitive/motor symptoms and include early alterations in broader physiological function.

Indexed as

Body CompositionC9orf72 ProteinFrontotemporal DementiaHypothalamusThalamusAbsorptiometry, PhotonAgedFemaleHeterozygoteHumansMagnetic Resonance ImagingMaleMiddle AgedC9orf72 ProteinC9orf72 protein, humanFTDgeneticmetabolismneurodegeneration

Identifiers

PMID42454523
PMCPMC13370791

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.