Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome

Mutations in the granulin (GRN) gene on chromosome 17 most commonly result in behavioral variant frontotemporal dementia (FTD) or primary progressive aphasia (PPA), although a wide range of phenotypes have been described.1,2 At the time of publication, 172 mutations have been described (molgen.vib-ua.be/FTDMutations), 79 of which are thought to be pathogenic, with no clear genotype-phenotype correlation. Here, we describe a novel mutation presenting as a dysexecutive, aphasic dementia and evolving into a corticobasal syndrome (CBS) phenotype.