. Multiparametric MRI study of ALS stratified for the C9orf72 genotype. Neurology. 2013 Jul 23;81(4):361-9. PubMed.


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  1. This is a very interesting study, and the authors perform a nice assessment of white matter tract degeneration in C9ORF72 expansion-positive patients, which is novel. My group looked at gray matter atrophy in frontotemporal dementia (FTD) patients with C9ORF72 mutations, rather than ALS, and so while the findings aren’t directly comparable, there are some similarities. In the current study, the authors found greater cortical thickness reduction in posterior regions of the brain, including parietal and occipital regions, in the C9ORF72-positive patients compared to those without the expansion (Figure 3). We found similar patterns of reduced gray matter volume in expansion-positive FTD patients compared to patients with sporadic FTD (Figure 1B in Whitwell et al., 2012). Therefore, while both expansion-positive and sporadic FTD patients show atrophy in the frontal and temporal lobes, the C9ORF72-positive patients show more involvement in parietal and occipital lobes. Another similarity across the studies was that we both observed relatively symmetric patterns of imaging abnormalities in the C9-positive patients, which fits with observations from other studies.


    . Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain. 2012 Mar;135(Pt 3):794-806. PubMed.

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  1. Brain Imaging Distinguishes C9ORF72 From Other Types of ALS