Abstract

C9orf72 mutation carriers with different neurological phenotypes, also in pre-symptomatic phases, show cortical atrophy in multiple different brain regions. Besides cortical thinning, also subcortical structureshave been found to be altered, both in C9orf72 carriers and in wild-type patients. The aim of this study is to assess cortical and subcortical alterations in a large sample of mutation carriers and matched wild-type ALS patients.

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