Section: New Results

White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations

Participants : Fatima Ameur, Olivier Colliot, Didier Dormont, Alexis Brice, Isabelle Le Ber, Anne Bertrand [Correspondant] .

Frontotemporal lobar degeneration (FTLD) has a high frequency of genetic forms; the 2 most common are GRN (progranulin) and C9ORF72 mutations. Recently, our group reported extensive white matter (WM) lesions in 4 patients with FTLD caused by GRN mutation, in the absence of noteworthy cardiovascular risk factors in line with other studies in GRN mutation carriers. Here we compared the characteristics of frontal WM lesions in patients with behavioral variant of FTLD (bv-FTLD) caused by GRN and C9ORF72 mutations. We found that WM lesions were more frequent and more atypical on both sides in the GRN group than in the control group and the C9ORF72 group.

More details in [3].