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

Fatima Ameur; Olivier Colliot; Paola Caroppo; Sebastian Ströer; Didier Dormont; Alexis Brice; Carole Azuar; Bruno Dubois; Isabelle Le Ber; Anne Bertrand

doi:10.1212/NXG.0000000000000047

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

Neurol Genet. 2016 Jan 28;2(1):e47. doi: 10.1212/NXG.0000000000000047. eCollection 2016 Feb.

Authors

Affiliation

¹ Service 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.