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C9ORF72EXPANSION

There are 2 papers on C9ORF72EXPANSION in aging research: 2 observational studies in people. The newest story, Nov 2, 2026: “Fat distribution differs in symptom-free dementia mutation carriers”.

Gene

2 papers study it4 findings

See all 2 papers on C9ORF72EXPANSION

At a glance

The findings reach people, from one lab or study. 2 independent labs in 11 countries.

“A reduced WM ratio was found in all brainstem subregions in symptomatic carriers compared to both noncarriers and pre-symptomatic carriers.”
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI studyJournal of neurology2022doi:10.1007/s00415-022-11435-x

1 of its findings points the other way.

Humans: a single group. Cells, worms or flies and mice: nothing yet.

C, W, M, H: cells, worms or flies, mice, humans. Dark: independent labs found the same change there. Light: one lab or one study. Outline: nothing yet.

Labs are independent when their papers share no last author and no institution.

Against: findings that point the other way from most findings on the same outcome.

Includes the processes named after it and trials of drugs aimed at it.

  • 2 independent labs in 11 countries
  • 1 finding against
  • Funders: Alzheimer's Society and others
  • Humans2

Effects

2

Brainstem white matter ratio

no changein humans1downin humans1

1 study

  1. C9ORF72EXPANSION was not clearly linked with brainstem white matter ratio in humans (presymptomatic carriers compared with non-carriers).

    “No differences were found between presymptomatic carriers and non-carriers.”

    Humanspresymptomatic carriers compared with non-carriersbrainstem

    Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study

    Journal of neurology

  2. C9ORF72EXPANSION is linked with lower brainstem white matter ratio in humans (symptomatic carriers compared with non-carriers and presymptomatic carriers).

    “A reduced WM ratio was found in all brainstem subregions in symptomatic carriers compared to both noncarriers and pre-symptomatic carriers.”

    Humanssymptomatic carriers compared with non-carriers and presymptomatic carriersbrainstem

    Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study

    Journal of neurology

More on Brainstem white matter ratio

Age-related white matter loss

upin humans1

1 study

  1. C9ORF72EXPANSION is linked with higher age-related white matter loss in humans (age-related loss compared with non-carriers).

    “C9orf72 carriers presented greater age-related WM loss than non-carriers, with MND patients showing significantly more atrophy in pons and medulla oblongata.”

    Humansage-related loss compared with non-carriersbrainstem

    Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study

    Journal of neurology

More on Age-related white matter loss

Associations

1

Android-to-gynoid ratio

downin humans1

1 study

  1. C9ORF72EXPANSION is associated with android-to-gynoid ratio in humans (asymptomatic carriers compared with non-carriers, average 11-12 years prior to onset).

    “Changes 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)”

    Humansasymptomatic carriers compared with non-carriers, average 11-12 years prior to onset

    Fat distribution differs in symptom-free dementia mutation carriers

    Alzheimer's & dementia : the journal of the Alzheimer's Association

More on Android-to-gynoid ratio

Latest

Dec 2025: 0Jan 2026: 0Feb 2026: 0Mar 2026: 0Apr 2026: 0May 2026: 0Jun 2026: 0Jul 2026: 1Aug 2026: 0Sep 2026: 0Oct 2026: 0Nov 2026: 01 paper in 12 months
Alzheimer's & Dementia

Fat distribution differs in symptom-free dementia mutation carriers

Body scans compared 13 symptom-free mutation carriers with 27 non-carriers and found differences in fat distribution and fat around internal organs.Body scans compared 13 symptom-free mutation carriers with 27 non-carriers and found differences in fat distribution and fat around internal organs.

Cross-sectional studyFrontotemporal dementia
Paper

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