Clinical variability and onset age modifiers in an extended Belgian GRN founder family

We previously reported a GRN null mutation, originating from a common founder, in multiple Belgian families with frontotemporal dementia (FTD). Here, we used data of a 10-year follow-up study to describe in detail the clinical heterogeneity observed in this extended founder pedigree. We identified 85 patients and 40 unaffected mutation carriers, belonging to 29 branches of the founder pedigree. Most patients (74.4%) were diagnosed with FTD, while others had a clinical diagnosis of unspecified dementia, Alzheimer ’s dementia or Parkinson’s disease.

Source: Neurobiology of Aging - March 9, 2018 Category: Neuroscience Authors: Eline Wauters, Sara Van Mossevelde, Kristel Sleegers, Julie van der Zee, Sebastiaan Engelborghs, Anne Sieben, Rik Vandenberghe, St éphanie Philtjens, Marleen Van den Broeck, Karin Peeters, Ivy Cuijt, Wouter De Coster, Tim Van Langenhove, Patrick Santens, Source Type: research