Symptomatic C9ORF72 mutation in non-fluent aphasia without neuroimaging signs of cerebral atrophy: A case study

Abstract

Expansion mutations in the C9orf72 gene may cause familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Diffuse subcortical brain atrophy, while absent in asymptomatic patients, is frequent in symptomatic C9orf72 subjects, suggesting a direct association with active disease. Therefore, neuroimaging studies may be used as follow-up biomarker in patients carrying the mutation. Here, we describe a case of initial non-fluent aphasia in a C9orf72 patient.