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Brain morphologic changes in asymptomatic C9orf72 repeat expansion carriers.

Renée Walhout¹, Ruben Schmidt¹, Henk-Jan Westeneng¹

¹From the Departments of Neurology (R.W., R.S., H.J.W., E.V., M.S., W.v.R., M.A.v.E., J.H.V., L.H.v.d.B.), Psychiatry (M.A.d.R., M.P.v.d.H.), and Radiology (J.H.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands.

|October 27, 2015

Summary

Asymptomatic carriers of the C9orf72 repeat expansion show subtle brain differences, including thinner cortical regions and smaller subcortical structures, before disease onset. These changes may indicate early effects of the genetic expansion.

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Area of Science:

Neurogenetics
Neuroimaging
Neurology

Background:

The C9orf72 gene expansion is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia.
Understanding pre-symptomatic changes is crucial for early intervention and disease mechanism insights.

Purpose of the Study:

To investigate brain morphology alterations in asymptomatic carriers of the C9orf72 repeat expansion.
To differentiate early genetic effects from disease-specific changes in ALS.

Main Methods:

Comparison of brain MRI data (cortical thickness, subcortical volumes, white matter connectivity) between 16 asymptomatic C9orf72 carriers and 23 non-carriers from the same family.
Inclusion of 14 C9orf72-positive ALS patients and 28 healthy controls for further comparison.

Main Results:

Asymptomatic carriers exhibited thinner temporal, parietal, and occipital cortical regions compared to non-carriers.
Smaller volumes in the left caudate and putamen were observed in asymptomatic carriers.
Cortical thinning in primary motor cortex and altered white matter connectivity were present in ALS patients, but not in asymptomatic carriers.

Conclusions:

The C9orf72 repeat expansion is associated with pre-symptomatic cortical and subcortical brain differences.
Motor region changes and white matter alterations appear to be specific to the disease state (ALS), not merely the carrier status.