Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics.
In 2011 the C9ORF72 repeat expansion was identified as the most frequent genetic mutation underlying FTD and ALS. The main aim of this study was to investigate clinical characteristics in a large C9ORF72-positive FTD family, and to compare these with the neuropathological findings.
