Atypical, slowly progressive behavioural variant frontotemporal dementia associated with<i>C9ORF72</i>hexanucleotide expansion

Abstract

C9ORF72 mutations can present with a bvFTD-SP phenotype. Some bvFTD-SP patients may have neurodegenerative pathology, and C9ORF72 mutations should be considered in patients with bvFTD-SP and a family history of dementia or motor neuron disease.