[Not Available].

Introduction

Effective longitudinal biomarkers that track disease progression are needed to characterize the presymptomatic phase of genetic frontotemporal dementia (FTD). We investigate the utility of cerebral perfusion as one such biomarker in presymptomatic FTD mutation carriers.

Methods

We investigated longitudinal profiles of cerebral perfusion using arterial spin labeling magnetic resonance imaging in 42 C9orf72, 70 GRN, and 31 MAPT presymptomatic carriers and 158 non-carrier controls. Linear mixed effects models assessed perfusion up to 5 years after baseline assessment.

Results

Perfusion decline was evident in all three presymptomatic groups in global gray matter. Each group also featured its own regional pattern of hypoperfusion over time, with the left thalamus common to all groups. Frontal lobe regions featured lower perfusion in those who symptomatically converted versus asymptomatic carriers past their expected age of disease onset.

Discussion

Cerebral perfusion is a potential biomarker for assessing genetic FTD and its genetic subgroups prior to symptom onset.

Highlights

Gray matter perfusion declines in at-risk genetic frontotemporal dementia (FTD). Regional perfusion decline differs between at-risk genetic FTD subgroups . Hypoperfusion in the left thalamus is common across all presymptomatic groups. Converters exhibit greater right frontal hypoperfusion than non-converters past their expected conversion date. Cerebral hypoperfusion is a potential early biomarker of genetic FTD.

© 2024 The Authors. Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association.

Overview publication

Title[Not Available].
Date2024-05-01
Issue nameAlzheimer's & dementia : the journal of the Alzheimer's Association
Issue numberv20.5:3525-3542
DOI10.1002/alz.13750
PubMed38623902
AuthorsPasternak M, Mirza SS, Luciw N, Mutsaerts HJMM, Petr J, Thomas D, Cash D, Bocchetta M, Tartaglia MC, Mitchell SB, Black SE, Freedman M, Tang-Wai D, Rogaeva E, Russell LL, Bouzigues A, van Swieten JC, Jiskoot LC, Seelaar H, Laforce R, Tiraboschi P, Borroni B, Galimberti D, Rowe JB, Graff C, Finger E, Sorbi S, de Mendonça A, Butler C, Gerhard A, Sanchez-Valle R, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Levin J, Otto M, Santana I, Strafella AP, MacIntosh BJ, Rohrer JD & Masellis M
InfoGENetic Frontotemporal dementia Initiative (GENFI), Nelson A, Bocchetta M, Cash D, Thomas DL, Todd E, Benotmane H, Nicholas J, Samra K, Shafei R, Timberlake C, Cope T, Rittman T, Benussi A, Premi E, Gasparotti R, Archetti S, Gazzina S, Arighi A, Fenoglio C, Scarpini E, Fumagalli G, Borracci V, Rossi G, Giaccone G, Fede GD, Caroppo P, Tiraboschi P, Prioni S, Redaelli V, Tang-Wai D, Rogaeva E, Castelo-Branco M, Freedman M, Keren R, Black S, Mitchell S, Shoesmith C, Bartha R, Rademakers R, Poos J, Papma JM, Giannini L, van Minkelen R, Pijnenburg Y, Nacmias B, Ferrari C, Polito C, Lombardi G, Bessi V, Veldsman M, Andersson C, Thonberg H, Öijerstedt L, Jelic V, Thompson P, Langheinrich T, Lladó A, Antonell A, Olives J, Balasa M, Bargalló N, Borrego-Ecija S, Verdelho A, Maruta C, Ferreira CB, Miltenberger G, Simões do Couto F, Gabilondo A, Gorostidi A, Villanua J, Cañada M, Tainta M, Zulaica M, Barandiaran M, Alves P, Bender B, Wilke C, Graf L, Vogels A, Vandenbulcke M, Van Damme P, Bruffaerts R, Poesen K, Rosa-Neto P, Gauthier S, Camuzat A, Brice A, Bertrand A, Funkiewiez A, Rinaldi D, Saracino D, Colliot O, Sayah S, Prix C, Wlasich E, Wagemann O, Loosli S, Schönecker S, Hoegen T, Lombardi J, Anderl-Straub S, Rollin A, Kuchcinski G, Bertoux M, Lebouvier T, Deramecourt V, Santiago B, Duro D, João Leitão M, Almeida MR, Tábuas-Pereira M, Afonso S
Keywordsarterial spin labeling, cerebral perfusion, frontotemporal dementia, presymptomatic biomarker
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