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

Abstract : 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,1 in line with other studies in GRN mutation carriers.2,3 Here we compared the characteristics of frontal WM lesions in patients with behavioral variant of FTLD (bv-FTLD) caused by GRN and C9ORF72 mutations.
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Fatima Ameur, Olivier Colliot, Paola Caroppo, Sebastian Stroer, Didier Dormont, et al.. White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations. Neurology: Genetics, American Academy of neurology, 2016, 2 (1), ⟨10.1212/NXG.0000000000000047⟩. ⟨hal-01266596⟩

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