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White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations
Fatima Ameur1, Olivier Colliot1, Paola Caroppo1
1Service de Neuroradiologie Diagnostique et Fonctionnelle (F.A., O.C., S.S., D.D., A. Bertrand), Département de Génétique et Cytogénétique, Unité Fonctionnelle de Génétique Clinique (A. Brice), Centre de Référence des Démences Rares (C.A., B.D., I.L.B.), and Département de Neurologie (O.C., C.A., B.D., I.L.B.), AP-HP Hôpital de la Pitié-Salpêtrière, Paris, France; INSERM (O.C., P.C., D.D., A. Brice, B.D., I.L.B., A. Bertrand), ICM, Paris, France; Sorbonne Université (O.C., P.C., D.D., A. Brice, B.D., I.L.B., A. Bertrand), UPMC Univ Paris, ICM, France; CNRS (O.C., P.C., D.D., A. Brice, B.D., I.L.B., A. Bertrand), ICM, Paris, France; INRIA (O.C., D.D., A. Bertrand), Centre Paris-Rocquencourt, France; ICM (O.C., P.C., D.D., A. Brice, C.A., B.D., I.L.B., A. Bertrand), Paris, France; Carlo Besta Institute (P.C.), Milan, Italy; and FrontLab (C.A.), INSERM, ICM, Paris, France.
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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